Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly509Glu (p.G509E) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Glu (p.G509E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRNA-mediated CRAF knowdown or Treatment with the pan-RAF Inhibitor sorafenib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6003
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/993
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Sorafenib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
18794803
Drugs
Drug NameSensitivitySupported
SorafenibSensitivitytrue