SPINT2

serine peptidase inhibitor, Kunitz type 2

Summary

This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants155 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17554832	19:38,754,948	G/A	—	benign
rs17554839	19:38,754,988	G/A	—	benign
rs17526168	19:38,755,092	C/G	—	benign
rs558616730	19:38,755,344	C/T	—	—
rs1046773	19:38,755,406	C/G	—	benign
rs121908404	19:38,755,533	A/T	missense variant	pathogenic
rs1968358471	19:38,755,535	G/A	—	pathogenic
rs1462711019	19:38,755,537	C/T	—	uncertain significance
rs1386633374	19:38,755,572	C/T	—	uncertain significance
rs1968359218	19:38,755,577	C/T	—	likely benign
rs367656580	19:38,755,578	C/T	—	benign
rs1353814439	19:38,755,607	C/A	—	likely benign
rs1049687227	19:38,755,613	G/T	—	likely benign
rs2513574294	19:38,755,618	A/G	—	uncertain significance
rs1968360244	19:38,755,620	C/A	—	likely benign
rs1968360344	19:38,755,623	G/A	—	uncertain significance
rs112797649	19:38,755,745	C/T	—	benign
rs3786870	19:38,755,864	C/T	—	benign
rs3786876	19:38,759,103	T/C	regulatory region variant	—
rs4803968	19:38,760,470	T/G	—	—
rs12979618	19:38,760,570	G/T	regulatory region variant	—
rs12608697	19:38,765,660	C/A	intron variant	—
rs7251987	19:38,766,373	A/T	—	—
rs2060243	19:38,773,966	A/G	—	benign
rs779887504	19:38,774,248	G/A	—	likely benign
rs200870624	19:38,774,257	C/T	—	likely benign
rs2146274899	19:38,774,280	G/A	—	likely benign
rs370877740	19:38,774,282	C/T	—	uncertain significance
rs1317452578	19:38,774,283	G/C	—	likely benign
rs777327266	19:38,774,289	G/A	—	likely benign
rs746707446	19:38,774,290	G/A	—	uncertain significance
rs190085217	19:38,774,301	C/T	—	likely benign
rs11548458	19:38,774,302	C/T	—	uncertain significance
rs1409082421	19:38,774,303	G/A	—	uncertain significance
rs1421428605	19:38,774,304	G/T	—	likely benign
rs202094610	19:38,774,311	A/G	—	uncertain significance
rs767551161	19:38,774,328	C/T	—	likely benign
rs143771318	19:38,774,330	A/G	—	uncertain significance
rs755846896	19:38,774,331	T/C	—	likely benign
rs754022452	19:38,774,337	T/C	—	likely benign
rs34298881	19:38,774,340	C/T	—	likely benign
rs2513589313	19:38,774,346	C/A	—	likely benign
rs758352175	19:38,774,351	A/G	—	uncertain significance
rs1418767584	19:38,774,372	G/A	—	uncertain significance
rs756781647	19:38,774,376	C/T	—	likely benign
rs2513589395	19:38,774,382	C/T	—	likely benign
rs769191493	19:38,774,395	C/G	—	uncertain significance
rs112235785	19:38,774,400	C/G	—	likely benign
rs748665791	19:38,774,406	G/C	—	uncertain significance
rs200143906	19:38,774,426	C/T	—	uncertain significance
rs2513589483	19:38,774,440	G/T	—	uncertain significance
rs113839543	19:38,774,444	T/C	—	benign
rs2513589490	19:38,774,447	C/T	—	likely benign
rs765086874	19:38,774,455	G/A	—	likely benign
rs924108835	19:38,778,496	G/A	—	likely benign
rs2513593177	19:38,778,500	C/G	—	likely benign
rs201543656	19:38,778,514	A/G	—	likely pathogenic
rs2513593193	19:38,778,521	G/A	—	likely benign
rs779776159	19:38,778,526	G/T	—	likely benign
rs2513593202	19:38,778,530	G/A	—	uncertain significance
rs182449727	19:38,778,568	C/G	—	likely benign
rs141683432	19:38,778,569	C/T	—	likely benign
rs606231155	19:38,778,577	T/C	splice region variant	pathogenic
rs775823776	19:38,778,580	G/A	—	uncertain significance
rs759143848	19:38,778,595	C/T	—	likely benign
rs8104823	19:38,778,617	A/G	—	benign
rs1281818332	19:38,779,761	A/G	—	likely benign
rs2513594879	19:38,779,764	T/C	—	likely benign
rs1182254805	19:38,779,796	C/G	—	uncertain significance
rs567336942	19:38,779,817	T/C	—	uncertain significance
rs2146278813	19:38,779,826	A/G	—	likely pathogenic
rs2146278816	19:38,779,827	T/C	—	likely benign
rs2146278822	19:38,779,833	T/C	—	likely pathogenic
rs765983944	19:38,779,841	C/T	—	likely benign
rs371302405	19:38,779,844	A/G	—	likely benign
rs759033239	19:38,779,847	G/A	—	likely benign
rs192921023	19:38,779,848	G/T	—	likely benign
rs376086427	19:38,780,744	C/T	—	likely benign
rs2513596166	19:38,780,755	C/T	—	likely benign
rs759003195	19:38,780,760	A/G	—	likely benign
rs2513596173	19:38,780,763	C/T	—	likely benign
rs369485782	19:38,780,766	C/T	—	likely benign
rs373217031	19:38,780,767	A/G	—	uncertain significance
rs376894698	19:38,780,769	C/T	—	likely benign
rs1429365071	19:38,780,770	G/A	—	uncertain significance
rs1195665162	19:38,780,773	A/G	—	uncertain significance
rs911317656	19:38,780,774	A/G	—	uncertain significance
rs368856630	19:38,780,775	C/T	—	likely benign
rs761038456	19:38,780,776	G/A	—	uncertain significance
rs2146279781	19:38,780,780	T/C	—	uncertain significance
rs1968698241	19:38,780,784	T/G	—	likely benign
rs1224874674	19:38,780,788	C/G	—	likely pathogenic
rs150103321	19:38,780,795	G/A	—	uncertain significance
rs200998013	19:38,780,805	C/G	—	uncertain significance
rs1279737892	19:38,780,809	C/T	—	likely pathogenic
rs780880496	19:38,780,814	G/A	—	pathogenic
rs745627010	19:38,780,820	T/C	—	likely benign
rs373558499	19:38,780,823	C/T	—	likely benign
rs1255750053	19:38,780,841	C/T	—	likely benign
rs121908403	19:38,780,855	A/G	missense variant	pathogenic

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.