Annotation Detail
Information
- Associated Genes
- GDNF
- Associated Variants
-
RET p.Gly691Ser (p.G691S)
(
ENST00000713926.1,
ENST00000355710.8,
ENST00000340058.6,
ENST00000615310.5 )
RET p.Gly691Ser (p.G691S) ( ENST00000615310.5, ENST00000340058.6, ENST00000355710.8, ENST00000713926.1 ) - Associated Disease
- pancreatic carcinoma
- Source Database
- DisGeNET
- Description
- A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma.
- Pubmed
- 22189301
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00325730246496364
- Year of publication
- 2012
Drugs