KANK2

KN motif and ankyrin repeat domains 2

Summary

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

Known Variants363 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4423524	19:11,275,394	C/T	—	—
rs11668313	19:11,276,256	T/C	3 prime UTR variant	—
rs4804572	19:11,277,074	T/C	—	benign
rs4804573	19:11,277,232	A/G	—	benign
rs372511483	19:11,277,236	A/G	—	uncertain significance
rs146639208	19:11,277,247	G/A	—	uncertain significance
rs117057052	19:11,277,278	T/C	—	likely benign
rs370943162	19:11,280,534	C/T	—	likely benign
rs200495084	19:11,280,535	G/A	—	likely benign
rs113611112	19:11,280,538	C/T	—	likely benign
rs372653569	19:11,280,539	G/A	—	likely benign
rs200363050	19:11,280,572	C/T	—	uncertain significance
rs761733941	19:11,280,573	G/A	—	uncertain significance
rs779791847	19:11,280,590	G/A	—	uncertain significance
rs1940173193	19:11,280,649	A/C	—	likely benign
rs187265104	19:11,280,655	C/T	—	likely benign
rs62129144	19:11,280,699	G/A	—	likely benign
rs747475104	19:11,280,706	A/T	—	likely benign
rs748622098	19:11,280,717	G/C	—	likely benign
rs374352032	19:11,280,724	G/A	—	uncertain significance
rs2512567123	19:11,280,729	C/T	—	uncertain significance
rs1468191286	19:11,280,754	C/T	—	likely benign
rs759430532	19:11,280,756	C/T	—	uncertain significance
rs151163966	19:11,280,757	G/A	—	benign
rs752500310	19:11,280,772	C/T	—	likely benign
rs368328659	19:11,280,774	C/T	—	uncertain significance
rs770899760	19:11,280,801	C/T	—	uncertain significance
rs146928170	19:11,280,823	G/A	—	likely benign
rs749907416	19:11,280,831	C/A	—	uncertain significance
rs61734840	19:11,280,838	G/A	—	likely benign
rs2078134869	19:11,280,867	C/A	—	uncertain significance
rs2512569264	19:11,280,871	G/C	—	likely benign
rs182645582	19:11,280,884	C/T	—	likely benign
rs146071116	19:11,280,885	G/T	—	likely benign
rs778884324	19:11,280,888	C/T	—	uncertain significance
rs201988386	19:11,280,889	G/A	—	likely benign
rs565767796	19:11,282,909	T/C	—	—
rs138318448	19:11,283,516	A/G	—	benign
rs200093308	19:11,283,643	C/T	—	likely benign
rs775823105	19:11,283,681	G/A	—	likely benign
rs2512597275	19:11,283,684	A/G	—	likely benign
rs138941748	19:11,283,688	C/T	—	uncertain significance
rs779350628	19:11,283,689	G/A	—	uncertain significance
rs2078221118	19:11,283,692	A/G	—	uncertain significance
rs752050429	19:11,283,716	C/T	—	uncertain significance
rs200321828	19:11,283,717	G/A	—	benign
rs141494405	19:11,283,736	G/A	—	uncertain significance
rs775199754	19:11,283,744	G/A	—	likely benign
rs765607833	19:11,283,758	G/A	—	uncertain significance
rs143339573	19:11,283,773	G/A	—	uncertain significance
rs201723514	19:11,283,798	A/G	—	likely benign
rs185203180	19:11,283,814	G/A	—	likely benign
rs73504667	19:11,283,869	C/T	—	benign
rs4804149	19:11,284,028	C/T	—	benign
rs390458	19:11,284,886	A/G	—	benign
rs34333186	19:11,284,891	T/A	—	benign
rs77154803	19:11,284,923	G/A	—	benign
rs116064499	19:11,285,063	G/A	—	benign
rs370054146	19:11,285,129	G/A	—	likely benign
rs115046996	19:11,285,149	C/T	—	uncertain significance
rs200918610	19:11,285,150	G/A	—	uncertain significance
rs146627846	19:11,285,159	C/T	—	likely benign
rs778713978	19:11,285,171	C/T	—	likely benign
rs112949085	19:11,285,174	G/A	—	likely benign
rs1555816634	19:11,285,190	G/A	—	pathogenic
rs149821111	19:11,285,194	C/T	—	uncertain significance
rs769528925	19:11,285,196	G/T	—	uncertain significance
rs186909287	19:11,285,206	G/A	—	benign
rs606231303	19:11,285,208	G/A	missense variant	pathogenic
rs1369519507	19:11,285,217	C/T	—	uncertain significance
rs764052605	19:11,285,218	C/T	—	uncertain significance
rs61734812	19:11,285,219	G/A	—	likely benign
rs202053134	19:11,285,230	C/T	—	uncertain significance
rs148849463	19:11,285,231	G/A	—	likely benign
rs199981469	19:11,285,256	C/T	—	uncertain significance
rs145082533	19:11,285,259	G/A	—	uncertain significance
rs555486186	19:11,285,268	G/A	—	uncertain significance
rs769161842	19:11,285,272	G/A	—	uncertain significance
rs761812391	19:11,285,276	C/T	—	likely benign
rs2078278252	19:11,285,285	G/T	—	uncertain significance
rs373772224	19:11,285,289	C/T	—	uncertain significance
rs751328990	19:11,285,292	C/T	—	uncertain significance
rs141923748	19:11,285,293	G/A	—	uncertain significance
rs145788005	19:11,285,303	G/A	—	likely benign
rs777617056	19:11,285,306	G/T	—	uncertain significance
rs1158675325	19:11,285,311	C/T	—	uncertain significance
rs748861881	19:11,285,312	G/A	—	likely benign
rs756897734	19:11,285,314	C/T	—	uncertain significance
rs140410551	19:11,285,319	C/A	—	uncertain significance
rs578192834	19:11,285,359	A/G	—	uncertain significance
rs760302912	19:11,285,363	C/T	—	likely benign
rs375041295	19:11,285,376	C/T	—	likely benign
rs1225216577	19:11,285,386	G/A	—	likely benign
rs440677	19:11,285,390	G/A	—	benign
rs35824347	19:11,285,457	G/A	—	benign
rs73504677	19:11,285,616	A/G	—	benign
rs12460558	19:11,286,416	G/A	—	benign
rs113491499	19:11,286,525	G/T	—	benign
rs1324009717	19:11,286,566	G/A	—	likely benign
rs779043691	19:11,286,574	G/A	—	likely benign

Showing 100 of 363 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.