ANLN

anillin, actin binding protein

Summary

This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Known Variants380 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114364726	7:36,429,297	C/G	—	likely benign
rs146029473	7:36,429,300	G/A	—	likely benign
rs555444152	7:36,429,435	G/T	—	likely benign
rs779142813	7:36,429,643	C/T	—	conflicting classifications of pathogenicity
rs372625290	7:36,429,644	G/C	—	likely benign
rs1305615894	7:36,429,656	G/A	—	uncertain significance
rs369030060	7:36,429,668	G/T	—	likely benign
rs10215150	7:36,435,745	C/G	—	benign
rs2534479807	7:36,435,880	G/A	—	likely benign
rs745505783	7:36,435,884	G/A	—	uncertain significance
rs200989750	7:36,435,887	C/T	—	uncertain significance
rs762482968	7:36,435,892	C/T	—	likely benign
rs997141455	7:36,435,893	C/T	—	uncertain significance
rs191463158	7:36,435,894	G/A	—	likely benign
rs2534480142	7:36,435,900	G/C	—	uncertain significance
rs2116507412	7:36,435,921	A/G	—	uncertain significance
rs765537134	7:36,435,936	C/T	—	uncertain significance
rs141973124	7:36,435,951	G/A	—	conflicting classifications of pathogenicity
rs116131910	7:36,435,956	A/G	—	likely benign
rs555242135	7:36,435,972	G/A	—	uncertain significance
rs745699628	7:36,435,983	C/T	—	uncertain significance
rs575071809	7:36,435,984	C/T	—	likely benign
rs35765596	7:36,435,996	C/G	—	uncertain significance
rs138687537	7:36,435,999	G/A	—	conflicting classifications of pathogenicity
rs752908729	7:36,436,023	G/A	—	uncertain significance
rs202002239	7:36,436,039	T/C	—	likely benign
rs73102277	7:36,436,221	T/C	—	benign
rs7791953	7:36,438,474	A/G	—	benign
rs181560875	7:36,438,672	A/G	—	likely benign
rs778547857	7:36,438,674	C/T	—	likely benign
rs533413145	7:36,438,675	G/A	—	benign
rs746376374	7:36,438,691	A/T	—	uncertain significance
rs200238245	7:36,438,706	C/G	—	uncertain significance
rs3735400	7:36,438,709	C/G	—	benign
rs373821252	7:36,438,739	C/T	—	uncertain significance
rs1478288672	7:36,438,743	A/C	—	uncertain significance
rs1250505806	7:36,438,744	G/A	—	uncertain significance
rs766185452	7:36,438,745	T/A	—	uncertain significance
rs1459424834	7:36,438,750	G/T	—	uncertain significance
rs1329130799	7:36,438,772	A/C	—	uncertain significance
rs200531175	7:36,438,782	G/A	—	benign
rs1786834325	7:36,438,805	C/G	—	uncertain significance
rs368245782	7:36,438,851	C/A	—	likely benign
rs1434477220	7:36,438,855	A/G	—	uncertain significance
rs1786838943	7:36,438,873	C/T	—	uncertain significance
rs758181302	7:36,438,874	C/T	—	uncertain significance
rs756822398	7:36,438,882	C/T	—	likely benign
rs780371833	7:36,438,889	G/C	—	uncertain significance
rs199636276	7:36,438,904	T/C	—	uncertain significance
rs748358673	7:36,438,915	T/C	—	likely benign
rs1353740914	7:36,438,926	T/G	—	likely benign
rs1454170131	7:36,438,935	C/T	—	likely benign
rs34285732	7:36,438,949	G/C	—	uncertain significance
rs2534497828	7:36,438,952	T/C	—	uncertain significance
rs1786843133	7:36,438,959	A/C	—	uncertain significance
rs1258444056	7:36,438,963	G/T	—	uncertain significance
rs2116527606	7:36,438,966	G/A	—	uncertain significance
rs765120972	7:36,438,968	G/C	—	likely benign
rs371775935	7:36,438,979	G/A	—	conflicting classifications of pathogenicity
rs146231215	7:36,438,987	A/G	—	uncertain significance
rs754293266	7:36,438,988	A/C	—	uncertain significance
rs2534498348	7:36,438,996	A/G	—	uncertain significance
rs1362270	7:36,445,589	T/A	—	benign
rs73106319	7:36,445,619	A/G	—	benign
rs1489053887	7:36,445,810	C/T	—	uncertain significance
rs1410979033	7:36,445,825	C/A	—	uncertain significance
rs148482760	7:36,445,826	C/T	—	uncertain significance
rs755450565	7:36,445,850	C/T	—	uncertain significance
rs61737563	7:36,445,855	A/C	—	benign
rs197367	7:36,445,856	A/G	—	benign
rs139482132	7:36,445,877	C/G	—	conflicting classifications of pathogenicity
rs376264665	7:36,445,878	G/A	—	likely benign
rs2116573554	7:36,445,882	A/G	—	uncertain significance
rs140160802	7:36,445,900	G/A	—	benign
rs1787184711	7:36,445,903	C/T	—	uncertain significance
rs767242076	7:36,445,927	A/G	—	uncertain significance
rs1483307228	7:36,445,943	A/G	—	uncertain significance
rs528529344	7:36,445,945	G/A	—	likely benign
rs2116574424	7:36,445,964	C/T	—	uncertain significance
rs543214617	7:36,445,982	A/C	—	uncertain significance
rs369437029	7:36,445,990	C/T	—	uncertain significance
rs747938812	7:36,446,038	G/A	—	uncertain significance
rs772798897	7:36,446,049	T/C	—	likely benign
rs372980930	7:36,446,054	G/A	—	conflicting classifications of pathogenicity
rs147088411	7:36,446,057	G/A	—	uncertain significance
rs2116575252	7:36,446,064	G/A	—	likely benign
rs2534535404	7:36,446,071	G/A	—	uncertain significance
rs2534535440	7:36,446,075	C/T	—	uncertain significance
rs1239416787	7:36,446,076	A/G	—	likely benign
rs762176310	7:36,446,093	A/T	—	uncertain significance
rs767994234	7:36,446,097	C/T	—	likely benign
rs923512260	7:36,446,098	G/A	—	uncertain significance
rs3735398	7:36,446,121	G/A	—	benign
rs1787196855	7:36,446,126	C/T	—	uncertain significance
rs755046345	7:36,446,132	C/T	—	uncertain significance
rs748050195	7:36,446,141	C/T	—	uncertain significance
rs771838347	7:36,446,153	A/G	—	uncertain significance
rs188228038	7:36,446,155	G/C	—	likely benign
rs2534536283	7:36,446,161	A/G	—	likely benign
rs1012009459	7:36,446,170	T/C	—	uncertain significance

Showing 100 of 380 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.