Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ala883Phe (p.A883F)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Ala883Phe (p.A883F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ala883Phe (p.A883F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Ala883Phe (p.A883F) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Medullary carcinoma of thyroid
- Source Database
- DisGeNET
- Description
- Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.
- Pubmed
- 21186952
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- 2011
Drugs