Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Val640Glu (p.V640E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In the setting of BRAF(V600E), NF1 loss resulted in elevated activation of RAS-GTP and resistance to RAF inhibitors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/90
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/12
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24576830
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |