WNK1

WNK lysine deficient protein kinase 1

Summary

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

Known Variants1,653 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs982467452	12:862,094	C/T	—	uncertain significance
rs544362530	12:862,134	C/G	—	benign
rs577916238	12:862,218	C/T	—	likely benign
rs118007973	12:862,280	A/G	—	benign
rs926467368	12:862,359	G/C	—	uncertain significance
rs886049859	12:862,364	G/T	—	uncertain significance
rs189463195	12:862,404	C/G	—	likely benign
rs886049861	12:862,424	G/T	—	uncertain significance
rs886049862	12:862,441	G/A	—	uncertain significance
rs886049863	12:862,469	C/A	—	uncertain significance
rs886049864	12:862,472	G/T	—	uncertain significance
rs549380671	12:862,479	A/G	—	uncertain significance
rs368645018	12:862,498	T/C	—	uncertain significance
rs372134044	12:862,519	G/T	—	benign
rs72647363	12:862,529	C/G	—	benign
rs72647364	12:862,573	C/T	—	benign
rs538911254	12:862,610	C/T	—	benign
rs3088353	12:862,641	G/T	—	benign
rs140209689	12:862,661	G/A	—	benign
rs537709613	12:862,698	C/T	—	benign
rs72647367	12:862,707	C/G	—	likely benign
rs556319875	12:862,709	C/T	—	benign
rs751262701	12:862,737	T/G	—	likely benign
rs779638918	12:862,741	G/A	—	uncertain significance
rs746437666	12:862,742	G/T	—	uncertain significance
rs1939508504	12:862,745	C/T	—	uncertain significance
rs867437047	12:862,760	G/A	—	uncertain significance
rs776535900	12:862,764	C/T	—	likely benign
rs1348704504	12:862,765	A/G	—	uncertain significance
rs1261454945	12:862,768	C/T	—	uncertain significance
rs761661421	12:862,770	C/T	—	likely benign
rs769543809	12:862,776	C/T	—	likely benign
rs1443431827	12:862,777	C/T	—	conflicting classifications of pathogenicity
rs774482432	12:862,778	T/A	—	uncertain significance
rs368453008	12:862,779	G/T	—	likely benign
rs2120992603	12:862,780	T/C	—	uncertain significance
rs1451142227	12:862,781	T/G	—	uncertain significance
rs1939515873	12:862,790	C/T	—	uncertain significance
rs72647368	12:862,791	G/A	—	likely benign
rs1331460551	12:862,792	C/T	—	uncertain significance
rs764758850	12:862,793	C/T	—	uncertain significance
rs1245390063	12:862,796	C/T	—	uncertain significance
rs779314969	12:862,799	C/T	—	uncertain significance
rs1211154368	12:862,805	C/T	—	uncertain significance
rs977121307	12:862,807	A/G	—	uncertain significance
rs746578232	12:862,815	C/T	—	likely benign
rs966530109	12:862,816	T/C	—	uncertain significance
rs768148840	12:862,821	C/G	—	uncertain significance
rs2120997237	12:862,823	C/G	—	uncertain significance
rs372795300	12:862,824	C/T	—	likely benign
rs1364175663	12:862,825	G/T	—	uncertain significance
rs2120997689	12:862,828	T/A	—	uncertain significance
rs1939524099	12:862,829	C/T	—	uncertain significance
rs748052079	12:862,830	C/T	—	uncertain significance
rs1334645967	12:862,833	C/T	—	likely benign
rs375485682	12:862,839	G/C	—	likely benign
rs935728437	12:862,857	G/A	—	conflicting classifications of pathogenicity
rs775564750	12:862,859	C/G	—	conflicting classifications of pathogenicity
rs764240024	12:862,861	G/A	—	uncertain significance
rs754447060	12:862,862	C/T	—	conflicting classifications of pathogenicity
rs1238704041	12:862,869	T/C	—	likely benign
rs1281317365	12:862,876	G/A	—	uncertain significance
rs1054625011	12:862,879	A/G	—	uncertain significance
rs1181342122	12:862,884	C/T	—	likely benign
rs758676601	12:862,895	G/A	—	uncertain significance
rs1174073920	12:862,897	C/G	—	uncertain significance
rs139844665	12:862,905	C/T	—	likely benign
rs1178074889	12:862,912	A/G	—	uncertain significance
rs780699781	12:862,918	A/C	—	uncertain significance
rs1297655112	12:862,920	G/C	—	uncertain significance
rs756914631	12:862,923	C/T	—	likely benign
rs145377957	12:862,925	G/A	—	uncertain significance
rs756078362	12:862,928	G/T	—	uncertain significance
rs777517901	12:862,929	T/C	—	conflicting classifications of pathogenicity
rs1939541687	12:862,930	G/A	—	uncertain significance
rs886049865	12:862,933	G/A	—	uncertain significance
rs1403201585	12:862,938	C/G	—	likely benign
rs368280492	12:862,940	C/G	—	conflicting classifications of pathogenicity
rs145076179	12:862,941	G/A	—	likely benign
rs1483871160	12:862,945	A/G	—	uncertain significance
rs1038270127	12:862,948	A/G	—	uncertain significance
rs747214764	12:862,953	C/G	—	likely benign
rs2547359621	12:862,954	A/T	—	uncertain significance
rs2547359790	12:862,961	A/C	—	uncertain significance
rs931039841	12:862,968	C/T	—	likely benign
rs3168640	12:862,989	T/C	—	benign
rs1409283366	12:862,992	C/T	—	likely benign
rs773586473	12:862,995	C/T	—	conflicting classifications of pathogenicity
rs886049866	12:862,997	A/G	—	uncertain significance
rs763414550	12:863,002	A/T	—	uncertain significance
rs1939553642	12:863,004	T/C	—	likely benign
rs766628142	12:863,008	C/G	—	uncertain significance
rs1013923540	12:863,023	C/T	—	uncertain significance
rs563691424	12:863,026	C/T	—	conflicting classifications of pathogenicity
rs560595238	12:863,027	C/T	—	conflicting classifications of pathogenicity
rs2121013479	12:863,029	C/T	—	uncertain significance
rs999394730	12:863,035	C/T	—	likely benign
rs142165599	12:863,045	C/G	—	uncertain significance
rs1451793795	12:863,053	C/G	—	uncertain significance
rs777835259	12:863,059	G/T	—	uncertain significance

Showing 100 of 1,653 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.