Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg231His (p.R231H)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Lys907Glu (p.K907E) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Arg231His (p.R231H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Lys907Glu (p.K907E) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- pheochromocytoma
- Source Database
- DisGeNET
- Description
- Here, we report that one mutation affecting the extracytoplasmic cadherin domain (R231H) and two mutations located in the tyrosine kinase domain (K907E, E921K) impaired the biological activity of RET-MEN 2A when tested in Rat1 fibroblasts and pheochromocytoma PC12 cells.
- Pubmed
- 9502784
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.604771992525671
- Year of publication
- 1998
Drugs