Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Cys634Tyr (p.C634Y)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Cys634Phe (p.C634F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Cys634Tyr (p.C634Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Ser (p.C634S) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Cys634Phe (p.C634F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.
- Pubmed
- 9950371
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 1999
Drugs