Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Asp (p.V640D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000496384.7, ENST00000644969.2, ENST00000646891.2, ENST00000288602.11 )
Associated Disease
melanoma
Source Database
DisGeNET
Description
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.
Pubmed
23317446
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.430771415721826
Year of publication
2013
Drugs