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.