DPP6

dipeptidyl peptidase like 6

Summary

This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Known Variants260 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2128935579	7:153,446,072	T/A	—	uncertain significance
rs980266	7:153,478,281	T/G	intergenic variant	—
rs144700205	7:153,484,675	T/A	—	—
rs10268402	7:153,485,627	T/C	intergenic variant	—
rs2622238	7:153,488,760	A/G	intergenic variant	—
rs2622237	7:153,489,069	A/G	intergenic variant	—
rs2533200	7:153,489,074	C/G	—	—
rs6969458	7:153,489,725	G/A	intergenic variant	—
rs554478585	7:153,529,295	T/C	—	—
rs2110267	7:153,535,689	C/G	intergenic variant	—
rs2192271	7:153,549,296	C/T	intergenic variant	—
rs6947495	7:153,553,064	A/T	intergenic variant	—
rs12671878	7:153,558,949	C/A	intergenic variant	—
rs38989	7:153,578,416	A/G	intergenic variant	—
rs1798992983	7:153,584,787	A/G	—	uncertain significance
rs1563207362	7:153,584,814	G/A	—	uncertain significance
rs7779540	7:153,622,662	G/A	intron variant	—
rs6464375	7:153,625,843	C/T	intron variant	—
rs758316	7:153,631,648	G/A	intron variant	—
rs1391507096	7:153,688,688	T/C	—	—
rs200027945	7:153,749,204	C/G	—	benign
rs7797494	7:153,749,291	A/C	—	benign
rs7798068	7:153,749,428	G/C	—	benign
rs1974615	7:153,749,753	C/T	—	benign
rs2486020218	7:153,749,908	G/A	—	uncertain significance
rs188616346	7:153,749,932	T/C	—	likely benign
rs2533731	7:153,749,963	G/A	—	conflicting classifications of pathogenicity
rs1217247861	7:153,749,993	G/A	—	uncertain significance
rs528815814	7:153,750,004	C/G	—	likely benign
rs2240820	7:153,750,014	G/T	—	uncertain significance
rs554552970	7:153,750,019	C/T	—	benign
rs1401359876	7:153,750,032	C/G	—	uncertain significance
rs866677381	7:153,750,037	C/T	—	likely benign
rs951614230	7:153,750,041	C/T	—	uncertain significance
rs1225695566	7:153,750,045	G/T	—	likely benign
rs1254774979	7:153,750,046	G/T	—	likely benign
rs2486021175	7:153,750,055	G/A	—	likely benign
rs1377059145	7:153,750,088	C/T	—	likely benign
rs879255429	7:153,750,098	G/T	—	uncertain significance
rs879255430	7:153,750,099	G/T	—	uncertain significance
rs1312055124	7:153,750,130	C/T	—	likely benign
rs569787719	7:153,750,131	G/A	—	likely benign
rs572667303	7:153,750,132	A/T	—	conflicting classifications of pathogenicity
rs760726966	7:153,750,140	G/A	—	likely benign
rs145699571	7:153,750,234	T/G	—	benign
rs556490588	7:153,755,777	A/G	—	benign
rs1387753251	7:153,758,128	G/A	—	benign
rs71530499	7:153,761,298	C/A	—	likely benign
rs112032011	7:154,002,207	G/A	—	benign
rs606231226	7:154,002,240	C/T	—	pathogenic
rs10251958	7:154,002,855	C/T	—	benign
rs6977820	7:154,072,020	T/C	intron variant	—
rs286856	7:154,111,880	C/T	intron variant	—
rs55913432	7:154,138,041	T/C	intron variant	—
rs2151289543	7:154,143,298	G/A	—	uncertain significance
rs2291538	7:154,143,443	C/T	—	benign
rs34749902	7:154,143,557	T/C	—	benign
rs2487175615	7:154,172,062	G/A	—	uncertain significance
rs571883604	7:154,172,086	T/C	—	benign
rs1174429072	7:154,172,125	G/A	—	uncertain significance
rs370973628	7:154,172,131	A/G	—	likely benign
rs3750042	7:154,172,154	G/A	—	benign
rs10239794	7:154,205,894	T/G	—	—
rs10260404	7:154,210,798	T/A	—	—
rs79694354	7:154,237,356	A/G	—	benign
rs79559356	7:154,237,414	A/G	—	benign
rs74629542	7:154,237,458	A/G	—	benign
rs528869521	7:154,237,608	C/G	—	likely benign
rs75078012	7:154,237,613	A/G	—	benign
rs28645456	7:154,237,842	T/C	—	benign
rs60547762	7:154,237,940	G/A	—	benign
rs6959418	7:154,263,725	T/A	—	benign
rs55633503	7:154,263,814	C/T	—	benign
rs1380601567	7:154,263,954	A/G	—	uncertain significance
rs11243354	7:154,379,234	T/C	—	benign
rs551144687	7:154,379,423	G/A	—	benign
rs867753430	7:154,379,450	C/T	—	uncertain significance
rs758691354	7:154,379,505	G/A	—	likely benign
rs35392762	7:154,379,517	C/T	—	benign
rs142196461	7:154,379,646	C/T	—	benign
rs375756767	7:154,379,655	G/A	—	likely benign
rs754346998	7:154,379,665	A/G	—	likely benign
rs760244585	7:154,379,724	C/G	—	uncertain significance
rs145851911	7:154,379,725	G/A	—	benign
rs117574002	7:154,379,727	A/G	—	conflicting classifications of pathogenicity
rs75213895	7:154,379,739	T/C	—	benign
rs369399467	7:154,379,740	G/A	—	likely benign
rs77985994	7:154,379,988	G/A	—	benign
rs12667032	7:154,406,581	G/A	intron variant	—
rs112311468	7:154,419,724	C/T	regulatory region variant	—
rs73727335	7:154,429,225	C/G	—	benign
rs11243339	7:154,429,560	T/C	—	benign
rs78772149	7:154,429,569	C/T	—	likely benign
rs1303021837	7:154,429,571	A/G	—	uncertain significance
rs869025384	7:154,429,577	C/T	—	uncertain significance
rs2488600333	7:154,429,589	A/G	—	uncertain significance
rs6972501	7:154,429,657	T/C	—	benign
rs56255210	7:154,429,804	C/G	—	benign
rs11971701	7:154,429,821	G/T	—	benign
rs1532089	7:154,429,846	G/A	—	benign

Showing 100 of 260 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.