Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease
Secondary malignant neoplasm of lymph node
Source Database
DisGeNET
Description
The results showed that the BRAF (V600E) mutation was associated with extra-thyroidal extension (OR = 2.09, 95 % CI = 1.69-2.58), advanced TNM stage (OR = 1.90, 95 % CI = 1.62-2.22), lymph node metastasis (OR = 1.68, 95 % CI = 1.41-2.01), multifocality (OR = 1.22, 95 % CI = 1.06-1.40), and recurrence (OR = 2.50, 95 % CI = 1.73-3.59).
Pubmed
24389984
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0173722798131394
Year of publication
2013
Drugs