Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Leu637Arg (p.L637R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Arg (p.L637R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants elevated phospho-MEK and ERK levels. Vemurafenib treatment of all of the BRAF mutant–expressing cells led to a decrease in phospho-MEK and ERK protein levels. Treatment with MEK inhibitor GSK1120212 led to a more dramatic decrease in phospho-ERK signaling.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1458
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/288
Rating
2
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Vemurafenib,Trametinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
22798288
Drugs
Drug NameSensitivitySupported
TrametinibSensitivitytrue
VemurafenibSensitivitytrue