chr1:115247090:> Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,247,090-115,259,515 |
| hg38 | chr1:114,704,469-114,716,894 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Docetaxel,Trametinib | B |
|
|
Sensitivity/Response | Somatic | 2 | 25542057 | Detail |
| melanoma | Trametinib | B |
|
|
Sensitivity/Response | Somatic | 2 | 22805292 | Detail |
| cancer | Trametinib,Metformin | D |
|
|
Sensitivity/Response | Somatic | 3 | 25504439 | Detail |
| melanoma | Omipalisib,Trametinib | D |
|
|
Sensitivity/Response | Somatic | 4 | 23431193 | Detail |
| skin melanoma | Binimetinib | B |
|
|
Sensitivity/Response | Somatic | 2 | 23414587 | Detail |
| skin melanoma | Amuvatinib | D |
|
|
Sensitivity/Response | Somatic | 1 | 24950457 | Detail |
| melanoma | Binimetinib | D |
|
|
Sensitivity/Response | Somatic | 3 | 24588908 | Detail |
| colorectal cancer | Cetuximab | D |
|
|
Resistance | Somatic | 2 | 22586653 | Detail |
| colorectal cancer | B |
|
|
Poor Outcome | Somatic | 3 | 24666267 | Detail | |
| skin melanoma | Ribociclib,Binimetinib | B |
|
|
Sensitivity/Response | Somatic | 3 | 26987942 | Detail |
| skin melanoma | Binimetinib | B |
|
|
Sensitivity/Response | Somatic | 5 | 28284557 | Detail |
| multiple myeloma | B |
|
|
N/A | Somatic | 4 | 18528420 | Detail | |
| colorectal cancer | Cetuximab,Panitumumab | A |
|
|
Resistance | Somatic | 4 | 28275037 | Detail |
| acute myeloid leukemia | B |
|
|
N/A | Somatic | 3 | 15951308 | Detail | |
| melanoma | Dabrafenib,Vemurafenib | B |
|
|
Resistance | Somatic | 2 | 24265155 | Detail |
| melanoma | B |
|
|
Poor Outcome | Somatic | 3 | 22180178 | Detail | |
| melanoma | MEK Inhibitor RO4987655 | B |
|
|
Sensitivity/Response | Somatic | 2 | 24947927 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Phase 1 trial of trametinib and docetaxel in patients with advanced melanoma lacking BRAF V600 mutat... | CIViC Evidence | Detail |
| Phase 1 trial in 97 patients with melanoma (81 cutaneous or unknown, 16 uveal). Seven patients were ... | CIViC Evidence | Detail |
| Preclinical study in 16 NRAS mutant cell lines (melanoma, lung carcinoma, neuroblastoma with various... | CIViC Evidence | Detail |
| In six NRAS mutant melanoma cell lines, concomitant use of MEK inhibitor and PI3K/mTOR inhibitor res... | CIViC Evidence | Detail |
| Phase II study in 71 patients with NRAS or BRAF V600 mutant melanoma treated with MEK162. Six (20%) ... | CIViC Evidence | Detail |
| Preclinical study in melanoma cell lines. Cell lines (2-5/assay) with NRAS mutation were more sensit... | CIViC Evidence | Detail |
| In a panel of 7 NRAS mutant melanoma cell lines, all 7 were found to be sensitive to the MEK inhibit... | CIViC Evidence | Detail |
| A cohort of patient-derived xenografts (PDX) from 85 patients with metastatic colorectal cancer was ... | CIViC Evidence | Detail |
| Patients with colorectal cancer harboring NRAS mutation have poorer survival outcome and worse progn... | CIViC Evidence | Detail |
| Inhibition of CDK4 and 6, regulators of the G1/S cell cycle checkpoint, arrests the cell cycle in th... | CIViC Evidence | Detail |
| NEMO is an ongoing, randomised, open-label phase 3 study of patients with advanced, unresectable, AJ... | CIViC Evidence | Detail |
| In patients with multiple myeloma, the presence of a mutation in NRAS was not significantly associat... | CIViC Evidence | Detail |
| NCCN guidelines indicate colorectal cancer patients with NRAS mutations should not be treated with E... | CIViC Evidence | Detail |
| The presence of NRAS mutation in AML patients does not impact diease prognosis (resistant disease, d... | CIViC Evidence | Detail |
| In a retrospective study of 44 relapsed melanoma patients harboring BRAF V600E or V600K (known BRAF ... | CIViC Evidence | Detail |
| In patients with stage IV melanoma, NRAS mutation was associated with reduced median survival compar... | CIViC Evidence | Detail |
| Phase I expansion and pharmacodynamic study of the oral MEK inhibitor RO4987655 (CH4987655). Among 8... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr1:115,247,090-115,259,515
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/208
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