Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Leu (p.V640L) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Met (p.V640M) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Leu (p.V640L) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Met (p.V640M) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Metastatic melanoma
Source Database
DisGeNET
Description
Response to MAPK pathway inhibitors in BRAF V600M-mutated metastatic melanoma.
Pubmed
25382067
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0494024207186152
Year of publication
2014
Drugs