Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gly12Asp (p.G12D)
(
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS p.Gly12Asp (p.G12D) ( ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In vitro studies of M229 (a human melanoma cell line) endogenously expressing wildtype KRAS and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably over-express KRAS4a G12D or KRAS4b G12D were more resistant to vemurafenib (a BRAF inhibitor) than cells transduced with empty vectors (90% vs 10% survival).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/3957
- Gene URL
- https://civic.genome.wustl.edu/links/genes/30
- Variant URL
- https://civic.genome.wustl.edu/links/variants/79
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24265155
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |