Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Asp634Gly (p.D634G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Asp634Gly (p.D634G) ( ENST00000646891.2, ENST00000496384.7, ENST00000644969.2, ENST00000288602.11 )
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
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6002
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/611
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
U0126
Evidence Level
D
Clinical Significance
Resistance
Pubmed
18794803
Drugs
Drug NameSensitivitySupported
U0126Resitance or Non-Reponsetrue