SPINK1 Chromosome 5
Serine peptidase inhibitor Kazal type 1
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What This Gene Does
The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Serine peptidase inhibitors, Kazal type
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000164266
Associated Conditions (13)
Hereditary pancreatitis
SPINK1-related disorder
Tropical pancreatitis
Cervical cancer
Pancreatitis
chronic
susceptibility to
Finnish congenital nephrotic syndrome
Chronic pancreatitis
Diabetes mellitus
Colon adenocarcinoma
Familial cancer of breast
Hepatocellular carcinoma
Key Variants
RS17107318
Benign/Likely benign; risk factor
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1007831681
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS147454311
Conflicting classifications of pathogenicity
Hereditary pancreatitis, SPINK1-related disorder, Hereditary pancreatitis
Health Risk
RS1554089593
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1756441909
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS190219062
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS191068215
Conflicting classifications of pathogenicity
Tropical pancreatitis, Hereditary pancreatitis, SPINK1-related disorder
Health Risk
RS200296519
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS2480198849
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS35006579
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS35523678
Conflicting classifications of pathogenicity
Hereditary pancreatitis, SPINK1-related disorder, Hereditary pancreatitis
Health Risk
RS368871387
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17107318 | Health Risk | Benign/Likely benign; risk factor | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1007831681 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS147454311 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, SPINK1-related disorder, Hereditary pancreatitis |
| RS1554089593 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1756441909 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS190219062 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS191068215 | Health Risk | Conflicting classifications of pathogenicity | Tropical pancreatitis, Hereditary pancreatitis, SPINK1-related disorder |
| RS200296519 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS2480198849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS35006579 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS35523678 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, SPINK1-related disorder, Hereditary pancreatitis |
| RS368871387 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS369163833 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS370266754 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Tropical pancreatitis, Cervical cancer |
| RS373011963 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS576564400 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS760077990 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS767903021 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS770387107 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS779832256 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Tropical pancreatitis, SPINK1-related disorder |
| RS781162491 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS17107315 | Health Risk | Conflicting classifications of pathogenicity; association; risk factor | Pancreatitis, chronic, susceptibility to |
| RS1561606446 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis, Hereditary pancreatitis |
| RS2480198981 | Health Risk | Likely pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS104893938 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS104893939 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1554089895 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS193922659 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS2480199266 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS35737774 | Health Risk | Pathogenic | Hereditary pancreatitis, Hereditary pancreatitis |
| RS148954387 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pancreatitis, Chronic pancreatitis, Tropical pancreatitis |