chr1:115256530:G>C Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,530-115,256,530 |
| hg38 | chr1:114,713,909-114,713,909 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.181C>G | NP_002515.1:p.Gln61Glu |
| Ensemble | ENST00000369535.5:c.181C>G | ENST00000369535.5:p.Gln61Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-07-14 | no assertion criteria provided | melanoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| 0.061 | melanoma | These results suggest a crucial role of keratinocytic RXRα to suppress formation... | BeFree | 25189354 | Detail |
| <0.001 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| 0.009 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| 0.002 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.236 | melanoma | We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V6... | BeFree | 20925915 | Detail |
| 0.009 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.002 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| 0.240 | Neurocutaneous melanosis | NA | CLINVAR | Detail | |
| 0.360 | GIANT PIGMENTED HAIRY NEVUS | NA | CLINVAR | Detail | |
| 0.001 | Colorectal cancer metastatic | We report two cases of mCRC with a Q61K NRAS mutation that had a favorable respo... | BeFree | 23400451 | Detail |
| <0.001 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| 0.236 | melanoma | In this study, we performed an integrative analysis of DNA methylation, gene exp... | BeFree | 25537510 | Detail |
| 0.009 | colorectal cancer | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | BeFree | 23400451 | Detail |
| 0.007 | colorectal carcinoma | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | BeFree | 23400451 | Detail |
| 0.003 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| <0.001 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| <0.001 | Stage IV Skin Melanoma | Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in mel... | BeFree | 22128787 | Detail |
| 0.236 | melanoma | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... | BeFree | 18668139 | Detail |
| 0.025 | melanoma | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... | BeFree | 18668139 | 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 | 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 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.120 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.001 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.236 | melanoma | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... | BeFree | 23855428 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) AND Melanoma | ClinVar | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced mela... | DisGeNET | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and N... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report two cases of mCRC with a Q61K NRAS mutation that had a favorable response to bevacizumab a... | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRN... | DisGeNET | Detail |
| Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | DisGeNET | Detail |
| Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in melanocytes recapitulat... | DisGeNET | Detail |
| In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... | DisGeNET | Detail |
| In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... | 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 |
| 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 |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... | 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
- rs121913254 dbSNP
- Genome
- hg19
- Position
- chr1:115,256,530-115,256,530
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
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