chr12:25398281:C>T Detail (hg19) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,398,281-25,398,281 |
| hg38 | chr12:25,245,347-25,245,347 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.38G>A | NP_004976.2:p.Gly13Asp |
| NM_033360.3:c.38G>A | NP_203524.1:p.Gly13Asp | |
| Ensemble | ENST00000256078.10:c.38G>A | ENST00000256078.10:p.Gly13Asp |
Summary
MGeND
| Clinical significance |
|
| Variant entry | 364 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star | ![]() |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
|
body of stomach |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
pyloric antrum |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
jejunum |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
caecum |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
appendix |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
ascending colon |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
transverse colon |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
descending colon |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
sigmoid colon |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
colon, unspecified |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectosigmoid junction |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectum |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
intrahepatic bile duct carcinoma |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
ill-defined sites within the digestive system |
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
Acute myeloblastic leukaemia |
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
|
Myelodysplastic syndromes |
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
|
Colorectal |
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
|
Others |
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
|
Adenocarcinoma of rectum (disorder) |
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
|
Primary adenocarcinoma of colon (disorder) |
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
|
Adenocarcinoma of sigmoid colon (disorder) |
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
|
Malignant tumor of rectum (disorder) |
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
|
Carcinoma of cecum (disorder) |
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
|
Primary malignant neoplasm of ovary (disorder)_Mucin (substance) |
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
|
Appendiceal cancer |
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
|
Bladder cancer |
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
|
colorectal cancer |
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
|
Small bowel cancer |
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
|
fundus of stomach |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
body of stomach |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
pyloric antrum |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
small intestine, unspecified |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
caecum |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
appendix |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
ascending colon |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
transverse colon |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
descending colon |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
sigmoid colon |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
colon, unspecified |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectosigmoid junction |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectum |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
intrahepatic bile duct carcinoma |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
ill-defined sites within the digestive system |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
bronchus or lung, unspecified |
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
Autoimmune lymphoproliferative syndrome |
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University | ||||
|
|
stomach cancer |
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
|
other |
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
|
fundus of stomach |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
body of stomach |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
pyloric antrum |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
jejunum |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
caecum |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
appendix |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
transverse colon |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
descending colon |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
colon, unspecified |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectosigmoid junction |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
malignant neoplasm of rectum |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
ill-defined sites within the digestive system |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
|
bronchus or lung, unspecified |
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
|
2015-07-01 | no assertion criteria provided | breast adenocarcinoma |
|
Detail |
|
|
2011-11-02 | criteria provided, single submitter | Non-small cell lung carcinoma |
|
Detail |
|
|
2015-07-01 | no assertion criteria provided | juvenile myelomonocytic leukemia |
|
Detail |
|
|
2015-07-01 | no assertion criteria provided | autoimmune lymphoproliferative syndrome type 4 |
|
Detail |
|
|
2016-03-10 | no assertion criteria provided | Neoplasm of the large intestine |
|
Detail |
|
|
2014-10-02 | no assertion criteria provided | Thyroid tumor |
|
Detail |
|
|
2014-10-02 | no assertion criteria provided | acute myeloid leukemia |
|
Detail |
|
|
2014-10-02 | no assertion criteria provided | Neoplasm of ovary |
|
Detail |
|
|
2015-07-01 | no assertion criteria provided | OCULOECTODERMAL SYNDROME, SOMATIC |
|
Detail |
|
|
2021-09-09 | criteria provided, multiple submitters, no conflicts | not provided |
|
Detail |
|
|
2018-07-19 | criteria provided, single submitter | Inborn genetic diseases |
|
Detail |
|
|
criteria provided, single submitter |
|
Detail | ||
|
|
2019-12-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
|
Detail |
|
|
no assertion provided | Encephalocraniocutaneous lipomatosis |
|
Detail | |
|
|
2023-08-19 | criteria provided, single submitter | RASopathy |
|
Detail |
|
|
2023-11-15 | criteria provided, single submitter | KRAS-related disorder |
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | Cetuximab | B |
|
|
Resistance | Somatic | 3 | 26371285 | Detail |
| colorectal cancer | Cetuximab | B |
|
|
Resistance | Somatic | 4 | 26812186 | Detail |
| colorectal cancer | Cetuximab | D |
|
|
Sensitivity/Response | Somatic | 4 | 20978259 | Detail |
| colorectal cancer | Dactolisib,Selumetinib | D |
|
|
Sensitivity/Response | Somatic | 2 | 22392911 | Detail |
| colorectal cancer | Panitumumab | C |
|
|
Resistance | Somatic | 18316791 | Detail | |
| colorectal cancer | Cetuximab | B |
|
|
Sensitivity/Response | Somatic | 4 | 20978259 | Detail |
| colorectal cancer | Cetuximab | D |
|
|
Resistance | Somatic | 22722830 | Detail | |
| colorectal cancer | Cetuximab | B |
|
|
Resistance | Somatic | 25666295 | Detail | |
| colorectal cancer | Cetuximab,Panitumumab | C |
|
|
Resistance | Somatic | 2 | 19223544 | Detail |
| colorectal cancer | Panitumumab,Cetuximab | C |
|
|
Resistance | Somatic | 2 | 19223544 | Detail |
| colorectal cancer | Cetuximab | B |
|
|
Resistance | Somatic | 2 | 26623049 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymic carcinoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| <0.001 | Thymoma, type C | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
| 0.082 | colorectal carcinoma | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
| 0.149 | Carcinogenesis | This system allowed us to rapidly compare the ability of 12 different KRAS mutat... | BeFree | 25065594 | Detail |
| 0.080 | Colorectal cancer metastatic | KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting ... | BeFree | 22972628 | Detail |
| 0.080 | Colorectal cancer metastatic | Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS ... | BeFree | 22441566 | Detail |
| 0.108 | colorectal cancer | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.025 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.080 | Colorectal cancer metastatic | Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer ... | BeFree | 22537608 | Detail |
| 0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.274 | colorectal cancer | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.082 | colorectal carcinoma | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.082 | colorectal carcinoma | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
| 0.160 | colorectal cancer | In this analysis, use of cetuximab was associated with longer overall and progre... | BeFree | 20978259 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.001 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.080 | colorectal carcinoma | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.160 | colorectal cancer | We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... | BeFree | 25359494 | Detail |
| <0.001 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.080 | Colorectal cancer metastatic | Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-r... | BeFree | 20978259 | Detail |
| 0.160 | colorectal cancer | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.080 | Colorectal cancer metastatic | Association of KRAS G13D tumor mutations with outcome in patients with metastati... | BeFree | 22734028 | Detail |
| 0.240 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | NA | CLINVAR | Detail | |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| <0.001 | Malignant tumor of colon | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.024 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.010 | colorectal carcinoma | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| <0.001 | colon carcinoma | We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... | BeFree | 19492075 | Detail |
| 0.082 | colorectal carcinoma | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.080 | colorectal carcinoma | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.082 | colorectal carcinoma | In this analysis, use of cetuximab was associated with longer overall and progre... | BeFree | 20978259 | Detail |
| 0.007 | colorectal cancer | KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... | BeFree | 23209813 | Detail |
| 0.080 | Colorectal cancer metastatic | Association KRAS G13D tumor mutated outcome in patients with chemotherapy refrac... | BeFree | 23537520 | Detail |
| 0.163 | Neoplasm Metastasis | Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D,... | BeFree | 19679400 | Detail |
| <0.001 | Sezary syndrome | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.003 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.160 | colorectal cancer | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
| 0.108 | colorectal cancer | KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... | BeFree | 23015072 | Detail |
| 0.160 | colorectal cancer | KRAS MASI is a significant event in colorectal cancer, specifically associated w... | BeFree | 25609577 | Detail |
| 0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| 0.448 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
| <0.001 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.006 | Malignant tumor of colon | The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... | BeFree | 16448675 | Detail |
| 0.074 | colorectal carcinoma | Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... | BeFree | 25367198 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 12 patients with KRAS G13D mutant, metastatic colorectal cancer were treated with single agent cetux... | CIViC Evidence | Detail |
| Meta-analysis encompassing eight randomized controlled trials (n = 5967) for assessment of both over... | CIViC Evidence | Detail |
| Cells harboring KRAS G13D mutation were sensitive to cetuximab treatment in isogenic SW48 cells and ... | CIViC Evidence | Detail |
| In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring KRAS, NRAS, PIK3CA or BRAF mutat... | CIViC Evidence | Detail |
| In a retrospective study of 427 metastatic colorectal patients, KRAS mutations were observed in 43% ... | CIViC Evidence | Detail |
| KRAS G13D mutation is associated with better response to Cetuximab with longer progression-free and ... | CIViC Evidence | Detail |
| In an in vitro study, a Lim1215 colorectal cancer cell line endogenously expressing KRAS G13D mutati... | CIViC Evidence | Detail |
| In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with... | CIViC Evidence | Detail |
| In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... | CIViC Evidence | Detail |
| In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... | CIViC Evidence | Detail |
| This is a retrospective analysis of 98 patients with metastatic colorectal cancer and KRAS mutations... | CIViC Evidence | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Breast adenocarcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Autoimmune lymphoproliferative syndrome type 4 | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Thyroid tumor | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of ovary | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND not provided | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Inborn genetic diseases | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Nevus sebaceous | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Encephalocraniocutaneous lipomatosis | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND RASopathy | ClinVar | Detail |
| NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND KRAS-related disorder | ClinVar | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... | DisGeNET | Detail |
| KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting clinical outcomes of... | DisGeNET | Detail |
| Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS p.G13D-mutated metas... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuxim... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
| In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... | DisGeNET | Detail |
| KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... | DisGeNET | Detail |
| Association KRAS G13D tumor mutated outcome in patients with chemotherapy refractory metastatic colo... | DisGeNET | Detail |
| Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) ... | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
| KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... | DisGeNET | Detail |
| KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... | DisGeNET | Detail |
| Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs112445441 dbSNP
- Genome
- hg19
- Position
- chr12:25,398,281-25,398,281
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- G13D
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/81
- Summary (CIViC Variant)
- While the KRAS G13 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort. This mutation, along with the mutations affecting the neighboring G12 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. However, results are conflicting with retrospective analyses suggesting a better response to EGFR-Inhibition. A recent prospective phase-II study (12 patients, Schirripa et. al. 2015) could not reproduce this finding and another prospective phase II trial is currently ongoing.
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