Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Pro1039Gln (p.P1039Q)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Met1064Thr (p.M1064T) ( ENST00000615310.5, ENST00000355710.8 )
RET p.Pro1039Gln (p.P1039Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Met1064Thr (p.M1064T) ( ENST00000355710.8, ENST00000615310.5 ) - Associated Disease
- multiple endocrine neoplasia type 2A
- Source Database
- DisGeNET
- Description
- In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transforming capacity of RET-MEN 2A nor stimulated the catalytic activity of RET in our ligand-independent system (S767R, P1039L, M1064T).
- Pubmed
- 9502784
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613995490717024
- Year of publication
- 1998
Drugs