Normal allele: GG
Variants of a signalling peptide that disrupts pancreatic secretory trypsin inhibitor (SPINK1) secretion cause hereditary autosomal dominant pancreatitis.
Polymorphism rs193922659 is related to topics like this:
Research and publications:
14722925 Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
16823394 Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
16981266 Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
17274009 Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
17568390 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.