chr1:115256528:> Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,528-115,256,530 |
| hg38 | chr1:114,713,907-114,713,909 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| melanoma | B |
Diagnostic
|
Supports
|
Positive | Somatic | 3 | 23861977 | Detail | |
| skin melanoma | Binimetinib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 23414587 | Detail |
| colorectal cancer | Cetuximab | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 20619739 | Detail |
| melanoma | Vemurafenib | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23569304 | Detail |
| skin melanoma | Selumetinib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 18390968 | Detail |
| colorectal cancer | Cetuximab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 20619739 | Detail |
| thyroid gland follicular carcinoma | B |
Prognostic
|
Supports
|
N/A | Somatic | 3 | 22650231 | Detail | |
| thyroid gland follicular carcinoma | B |
Prognostic
|
Does Not Support
|
Poor Outcome | Somatic | 2 | 25448848 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Melanoma associated with NRAS Q61 mutation was more often associated with those at the extremity tha... | CIViC Evidence | Detail |
| Phase 2 study of MEK162 in patients with advanced melanoma and NRAS or BRAF mutation. 71 patients we... | CIViC Evidence | Detail |
| In chemotherapy-refractory patients with colorectal cancer, NRAS mutation status (primarily Q61) was... | CIViC Evidence | Detail |
| Vemurafenib resistance is associated with gain of Q61 mutation in NRAS. | CIViC Evidence | Detail |
| Phase 1 trial in 57 patients with advanced cancers treated with selumetinib. 4 melanoma patients had... | CIViC Evidence | Detail |
| Chemotherapy-refractory patients with colorectal cancer harboring NRAS mutation (primarily Q61) have... | CIViC Evidence | Detail |
| In patients with follicular thyroid carcinoma, those with mutations in NRAS at codon 61 did not have... | CIViC Evidence | Detail |
| Follicular thyroid cancers harboring RAS mutations have limited aggressiveness in the absence of TER... | 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
- chr1:115,256,528-115,256,530
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- Q61
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/94
- Summary (CIViC Variant)
- NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. Two melanoma patients, each harboring mutations at this locus (Q61L and Q61R), responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.
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