Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys609Tyr (p.C609Y)
(
ENST00000355710.8,
ENST00000340058.6,
ENST00000713926.1,
ENST00000615310.5 )
RET p.Cys609Ser (p.C609S) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Cys609Phe (p.C609F) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys609Tyr (p.C609Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Ser (p.C609S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys609Phe (p.C609F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- familial medullary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR.
- Pubmed
- 7633441
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.521802048300367
- Year of publication
- 1995
Drugs