SPINK1
serine peptidase inhibitor Kazal type 1
Summary
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]
Known Variants163 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3777126 | 5:147,203,906 | T/G | — | — |
| rs4151639 | 5:147,204,093 | T/C | — | likely benign |
| rs113527737 | 5:147,204,173 | A/G | — | likely benign |
| rs763350070 | 5:147,204,176 | G/A | — | uncertain significance |
| rs377333227 | 5:147,204,190 | G/A | — | benign |
| rs11319 | 5:147,204,192 | G/A | — | likely benign |
| rs368871387 | 5:147,204,197 | C/A | — | conflicting classifications of pathogenicity |
| rs2480192008 | 5:147,204,225 | C/T | — | likely benign |
| rs768532836 | 5:147,204,227 | G/T | — | uncertain significance |
| rs1756366765 | 5:147,204,228 | C/T | — | uncertain significance |
| rs2480192032 | 5:147,204,229 | A/C | — | uncertain significance |
| rs1756366838 | 5:147,204,232 | G/A | — | uncertain significance |
| rs34809998 | 5:147,204,233 | C/T | — | likely benign |
| rs2480192056 | 5:147,204,235 | C/G | — | uncertain significance |
| rs2480192068 | 5:147,204,237 | G/C | — | uncertain significance |
| rs1756367137 | 5:147,204,238 | A/C | — | uncertain significance |
| rs1163281900 | 5:147,204,240 | T/A | — | uncertain significance |
| rs2480192079 | 5:147,204,242 | T/C | — | likely benign |
| rs2480192086 | 5:147,204,243 | T/C | — | likely benign |
| rs200263045 | 5:147,204,246 | A/G | — | uncertain significance |
| rs982462613 | 5:147,204,247 | T/A | — | uncertain significance |
| rs543864495 | 5:147,204,248 | G/A | — | likely benign |
| rs749558779 | 5:147,204,249 | A/G | — | uncertain significance |
| rs2480192134 | 5:147,204,252 | A/T | — | uncertain significance |
| rs2480192139 | 5:147,204,253 | T/C | — | likely benign |
| rs1369310406 | 5:147,204,254 | A/G | — | likely benign |
| rs373011963 | 5:147,204,256 | A/T | — | conflicting classifications of pathogenicity |
| rs576564400 | 5:147,204,258 | G/A | — | conflicting classifications of pathogenicity |
| rs2480192175 | 5:147,204,260 | C/T | — | likely benign |
| rs760077990 | 5:147,204,261 | T/C | — | conflicting classifications of pathogenicity |
| rs767978919 | 5:147,204,263 | G/A | — | likely benign |
| rs35523678 | 5:147,204,264 | C/T | — | conflicting classifications of pathogenicity |
| rs515726208 | 5:147,204,265 | G/A | missense variant | uncertain significance |
| rs143014431 | 5:147,204,266 | T/G | — | uncertain significance |
| rs1554089593 | 5:147,204,276 | T/C | — | uncertain significance |
| rs529627158 | 5:147,204,284 | A/T | — | likely benign |
| rs377350168 | 5:147,204,290 | A/T | — | likely benign |
| rs17717320 | 5:147,205,914 | C/G | regulatory region variant | — |
| rs114094661 | 5:147,207,401 | A/T | — | likely benign |
| rs112569673 | 5:147,207,495 | T/A | — | likely benign |
| rs759755519 | 5:147,207,566 | A/C | — | likely benign |
| rs371154048 | 5:147,207,570 | C/G | — | likely benign |
| rs761201715 | 5:147,207,579 | A/G | — | uncertain significance |
| rs148954387 | 5:147,207,583 | A/G | splice region variant | pathogenic |
| rs141634296 | 5:147,207,585 | C/T | — | uncertain significance |
| rs536203389 | 5:147,207,586 | G/A | — | uncertain significance |
| rs765307896 | 5:147,207,587 | A/G | — | likely benign |
| rs1261616345 | 5:147,207,589 | T/C | — | uncertain significance |
| rs1223176202 | 5:147,207,591 | T/C | — | uncertain significance |
| rs2480198835 | 5:147,207,593 | A/G | — | likely benign |
| rs1756440825 | 5:147,207,598 | A/G | — | uncertain significance |
| rs750670272 | 5:147,207,602 | C/T | — | likely benign |
| rs781162491 | 5:147,207,604 | C/T | — | conflicting classifications of pathogenicity |
| rs35737774 | 5:147,207,605 | G/T | — | pathogenic |
| rs756166467 | 5:147,207,606 | C/T | — | uncertain significance |
| rs2480198905 | 5:147,207,607 | A/G | — | uncertain significance |
| rs777412858 | 5:147,207,609 | T/C | — | uncertain significance |
| rs1756441667 | 5:147,207,611 | A/T | — | uncertain significance |
| rs111966833 | 5:147,207,616 | G/A | — | likely benign |
| rs778375105 | 5:147,207,617 | A/G | — | likely benign |
| rs515726207 | 5:147,207,619 | A/G | missense variant | not provided |
| rs2480199001 | 5:147,207,620 | A/G | — | likely benign |
| rs2480199009 | 5:147,207,622 | T/C | — | uncertain significance |
| rs1756442430 | 5:147,207,624 | T/C | — | uncertain significance |
| rs515726206 | 5:147,207,629 | A/C | missense variant | likely benign |
| rs2480199057 | 5:147,207,632 | A/C | — | likely benign |
| rs2480199088 | 5:147,207,640 | A/G | — | uncertain significance |
| rs1379675813 | 5:147,207,642 | A/T | — | uncertain significance |
| rs772387015 | 5:147,207,643 | C/G | — | uncertain significance |
| rs775872440 | 5:147,207,645 | G/C | — | uncertain significance |
| rs1756443349 | 5:147,207,646 | G/T | — | uncertain significance |
| rs1561605311 | 5:147,207,651 | T/C | — | uncertain significance |
| rs2127133850 | 5:147,207,652 | A/G | — | uncertain significance |
| rs370266754 | 5:147,207,653 | T/C | — | conflicting classifications of pathogenicity |
| rs1425423799 | 5:147,207,656 | C/T | — | likely benign |
| rs1554089812 | 5:147,207,658 | T/G | — | uncertain significance |
| rs2480199195 | 5:147,207,662 | G/A | — | likely benign |
| rs1561605325 | 5:147,207,665 | T/C | — | likely benign |
| rs1580941617 | 5:147,207,666 | C/T | — | uncertain significance |
| rs769216699 | 5:147,207,668 | A/C | — | uncertain significance |
| rs200142833 | 5:147,207,669 | T/A | — | uncertain significance |
| rs761739859 | 5:147,207,670 | T/G | — | uncertain significance |
| rs2480199248 | 5:147,207,671 | A/T | — | likely benign |
| rs2480199253 | 5:147,207,672 | A/G | — | uncertain significance |
| rs765379826 | 5:147,207,674 | T/C | — | likely benign |
| rs2480199266 | 5:147,207,676 | C/A | — | pathogenic |
| rs17107315 | 5:147,207,678 | T/C | missense variant | pathogenic |
| rs1330036204 | 5:147,207,680 | G/A | — | likely benign |
| rs2480199319 | 5:147,207,687 | T/A | — | uncertain significance |
| rs2480199367 | 5:147,207,701 | G/A | — | likely benign |
| rs2480199388 | 5:147,207,711 | G/T | — | likely benign |
| rs199929811 | 5:147,207,714 | T/A | — | likely benign |
| rs78365498 | 5:147,209,108 | G/A | — | likely benign |
| rs200296519 | 5:147,209,136 | A/G | — | conflicting classifications of pathogenicity |
| rs372002805 | 5:147,209,144 | T/C | — | likely benign |
| rs955053963 | 5:147,209,152 | A/G | — | likely benign |
| rs1756473313 | 5:147,209,155 | T/A | — | likely benign |
| rs1554089890 | 5:147,209,156 | C/G | — | uncertain significance |
| rs1554089895 | 5:147,209,161 | C/T | — | pathogenic |
| rs1756473682 | 5:147,209,165 | T/A | — | uncertain significance |
Showing 100 of 163 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.