Annotation Detail
Information
- Associated Genes
- SPINK1
- Associated Variants
-
SPINK1 p.Asn34Ser (p.N34S)
(
ENST00000510027.2,
ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 ) - Associated Disease
- pancreatitis
- Source Database
- DisGeNET
- Description
- Mechanisms other than the conformational change of PSTI associated with amino-acid substitution, such as abnormal splicing, may underlie the predisposition to pancreatitis in patients with the N34S mutation.
- Pubmed
- 12483248
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.238052024572807
- Year of publication
- 2002
Drugs