Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Gly509Val (p.G509V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Ala (p.G509A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Glu (p.G509E) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Val (p.G509V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Ala (p.G509A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly509Glu (p.G509E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Metastatic melanoma
Source Database
DisGeNET
Description
Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of therapy with BRAF inhibitors and a promising therapeutic approach may be with nab-paclitaxel.
Pubmed
26070258
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0494024207186152
Year of publication
2015
Drugs