Annotation Detail
Information
- Associated Genes
- GNB3
- Associated Variants
-
GNB3 p.Ser275= (p.S275=)
(
ENST00000435982.6,
ENST00000229264.8,
ENST00000422785.7 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 ) - Associated Disease
- Thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Gain-of-function mutations in the TSH receptor and the Galpha(S) subunit occur frequently in hyperfunctioning thyroid nodules and differentiated thyroid carcinomas, whereby the T allele of a common polymorphism (825C>T, rs5443) in the G protein beta3 subunit gene (GNB3) is associated with increased G protein-mediated signal transduction and a complex phenotype.
- Pubmed
- 19772422
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs