Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Leu637Arg (p.L637R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Gln (p.L637Q) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000646891.2, ENST00000496384.7, ENST00000644969.2 )
BRAF p.Gly506Ala (p.G506A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Glu (p.G506E) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly504Val (p.G504V) ( ENST00000644969.2, ENST00000288602.11, ENST00000496384.7, ENST00000646891.2 )
BRAF p.Gly504Ala (p.G504A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly504Glu (p.G504E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Arg (p.L637R) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Leu637Gln (p.L637Q) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Val (p.G506V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Ala (p.G506A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly506Glu (p.G506E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly504Val (p.G504V) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly504Ala (p.G504A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Gly504Glu (p.G504E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
adenocarcinoma
Source Database
DisGeNET
Description
Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumor specimens, one in exon 11 (G465V), and a second in exon 15 (L596R).
Pubmed
12460919
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0547601587249446
Year of publication
2002
Drugs