Annotation Detail

Information
Associated Genes
BRAF
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.Lys641Glu (p.K641E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Lys641Gln (p.K641Q) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
follicular adenoma
Source Database
DisGeNET
Description
A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma.
Pubmed
12881714
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Year of publication
2003
Drugs