Annotation Detail

Information
Associated Genes
CDK9
Associated Variants
BRAF p.Leu637Ser (p.L637S) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Ser (p.L637S) ( ENST00000646891.2, ENST00000644969.2, ENST00000288602.11, ENST00000496384.7 )
Associated Disease
Metastatic melanoma
Source Database
DisGeNET
Description
A patient with BRAF(L597S) mutant metastatic melanoma responded significantly to treatment with the MEK inhibitor, TAK-733.
Pubmed
22798288
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs