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
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant melanoma depends on JNK and TNF-α signaling.
Pubmed
23624923
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.430771415721826
Year of publication
2013
Drugs