Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000646891.2, ENST00000496384.7, ENST00000644969.2 )
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Solid Tumor
Source Database
CIViC Evidence
Description
RAF inhibitor vemurafenib failed to inhibit ERK signaling in tumor cells and NIH3T3 that express class 3 BRAF mutations (G466V, G466E, D594G, D594N, and G596R).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7554
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/2222
Rating
3
Evidence Type
Predictive
Disease
Solid Tumor
Evidence Direction
Does Not Support
Drug
Vemurafenib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
28783719
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivityfalse