Annotation Detail
Information
- Associated Genes
- MET
- Associated Variants
-
MET p.Tyr1248Cys (p.Y1248C)
(
ENST00000318493.11,
ENST00000397752.8 )
MET p.Tyr1248Cys (p.Y1248C) ( ENST00000318493.11, ENST00000397752.8 ) - Associated Disease
- hereditary renal cell carcinoma
- Source Database
- DisGeNET
- Description
- We identified two somatic mutations: the Y1230C, known as a MET germline mutation which predisposes to hereditary renal cell carcinoma, and the Y1235D that is novel and changes a critical tyrosine, known to regulate MET kinase activity.
- Pubmed
- 10734314
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2000
Drugs