Annotation Detail
Information
- Associated Genes
- MAP2K7
- Associated Variants
-
BRAF p.Lys641Glu (p.K641E)
(
ENST00000496384.7,
ENST00000288602.11,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Lys641Gln (p.K641Q) ( 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) ( ENST00000496384.7, ENST00000288602.11, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Lys641Glu (p.K641E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Lys641Gln (p.K641Q) ( 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 ) - Associated Disease
- Metastatic melanoma
- Source Database
- DisGeNET
- Description
- We carried out a retrospective analysis of efficacy and safety in four patients with BRAF K601E and one patient with L597Q mutation-positive metastatic melanoma treated with the MEK inhibitor trametinib.
- Pubmed
- 24933606
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00570027931368637
- Year of publication
- 2015
Drugs