Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Asp631Asn (p.D631N)
(
ENST00000355710.8,
ENST00000615310.5,
ENST00000340058.6,
ENST00000713926.1 )
RET p.Asp631Tyr (p.D631Y) ( ENST00000615310.5, ENST00000713926.1, ENST00000355710.8, ENST00000340058.6 )
RET p.Asp631Asn (p.D631N) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Asp631Tyr (p.D631Y) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia
- Source Database
- DisGeNET
- Description
- A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.
- Pubmed
- 16839264
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.304802169860264
- Year of publication
- 2006
Drugs