Annotation Detail
Information
- Associated Genes
- STAT3
- Associated Variants
-
RET p.Ser32Leu (p.S32L)
(
ENST00000638465.2,
ENST00000683278.2,
ENST00000640619.2,
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000684216.2,
ENST00000615310.5 )
RET p.Phe393Leu (p.F393L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Ser32Leu (p.S32L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Phe393Leu (p.F393L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- multiple endocrine neoplasia type 2B
- Source Database
- DisGeNET
- Description
- With the aid of two RET mutants (RET(MEN 2B/S32L) and RET(MEN 2B/F393L)), which accumulate in the ER, we show that the oncogenic precursor of the receptor has the capacity to activate AKT, extracellular signal-regulated kinase and signal transducer and activator of transcription 3 from the ER.
- Pubmed
- 17599050
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2007
Drugs