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 neoplasm
Source Database
DisGeNET
Description
In contrast, BRAF-mutated cases with diagnoses of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) and follicular neoplasm/suspicious for follicular neoplasm were found to be more strongly associated with the follicular variant of PTC, a K601E BRAF mutation, and a lower likelihood of extrathyroidal extension.
Pubmed
22887810
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Year of publication
2013
Drugs