ACTN4

actinin alpha 4

Summary

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]

Known Variants346 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10404257	19:39,136,486	G/A	upstream gene variant	—
rs183649296	19:39,138,130	G/C	—	likely benign
rs17523223	19:39,138,149	C/T	—	likely benign
rs143117850	19:39,138,164	A/C	—	likely benign
rs545517811	19:39,138,343	A/G	—	likely benign
rs927944565	19:39,138,347	G/T	—	likely benign
rs1599749535	19:39,138,398	C/T	—	uncertain significance
rs764029233	19:39,138,410	C/G	—	uncertain significance
rs372129305	19:39,138,440	G/T	—	uncertain significance
rs572451257	19:39,138,450	C/T	—	conflicting classifications of pathogenicity
rs776722855	19:39,138,473	G/A	—	uncertain significance
rs2144806261	19:39,138,546	A/G	—	drug response
rs181837409	19:39,138,553	C/T	—	benign
rs767127428	19:39,138,559	G/A	—	likely benign
rs199812484	19:39,138,580	G/A	—	likely benign
rs2303040	19:39,138,608	T/C	—	benign
rs12460849	19:39,143,884	G/C	—	—
rs55876653	19:39,146,780	G/T	—	—
rs1808382	19:39,151,034	G/C	—	—
rs62121816	19:39,164,464	C/T	intron variant	—
rs60687267	19:39,170,856	T/C	—	—
rs7252589	19:39,170,908	G/A	regulatory region variant	—
rs973009	19:39,174,332	G/A	regulatory region variant	—
rs62121823	19:39,178,481	G/A	intron variant	—
rs35941349	19:39,179,279	A/G	intron variant	—
rs56113315	19:39,184,166	C/G	coding sequence variant	—
rs10421560	19:39,186,613	G/A	upstream gene variant	—
rs11083475	19:39,188,112	G/A	regulatory region variant	—
rs112084615	19:39,191,051	C/T	—	likely benign
rs2515170802	19:39,191,231	C/T	—	conflicting classifications of pathogenicity
rs2144991877	19:39,191,235	C/A	—	likely benign
rs1599819620	19:39,191,242	C/G	—	likely benign
rs768656011	19:39,191,247	C/T	—	uncertain significance
rs1968240092	19:39,191,252	T/C	—	likely pathogenic
rs1478339393	19:39,191,267	C/G	—	uncertain significance
rs146499679	19:39,191,290	C/G	—	conflicting classifications of pathogenicity
rs2144992138	19:39,191,309	T/C	—	drug response
rs759055242	19:39,191,313	G/A	—	uncertain significance
rs1179808544	19:39,191,317	C/T	—	likely benign
rs77307137	19:39,191,323	C/T	—	benign
rs550398621	19:39,191,333	C/G	—	uncertain significance
rs367547415	19:39,191,371	C/T	—	likely benign
rs780436604	19:39,191,374	A/G	—	likely benign
rs2112649	19:39,191,383	C/G	—	benign
rs73038909	19:39,191,544	G/A	—	benign
rs754130380	19:39,191,630	T/G	—	benign
rs771850037	19:39,191,647	C/T	—	uncertain significance
rs144919593	19:39,191,661	G/A	—	likely benign
rs776245124	19:39,191,670	G/T	—	conflicting classifications of pathogenicity
rs1968257465	19:39,191,707	G/A	—	uncertain significance
rs769343913	19:39,191,710	C/T	—	likely benign
rs140381330	19:39,191,733	C/T	—	likely benign
rs761068296	19:39,191,749	A/G	—	uncertain significance
rs3786845	19:39,195,083	C/G	regulatory region variant	—
rs2287729	19:39,195,314	T/G	—	benign
rs2287728	19:39,195,558	C/T	—	benign
rs1968406976	19:39,195,570	G/A	—	likely benign
rs375921941	19:39,195,585	G/A	—	uncertain significance
rs148591083	19:39,195,590	C/T	—	likely benign
rs1356402216	19:39,195,603	C/T	—	likely benign
rs1420356916	19:39,195,621	A/G	—	uncertain significance
rs1568723797	19:39,195,634	T/C	—	likely pathogenic
rs201314541	19:39,195,635	C/A	—	uncertain significance
rs202175464	19:39,195,653	C/T	—	benign
rs2145009642	19:39,195,658	A/G	—	drug response
rs2515194512	19:39,195,672	C/T	—	likely benign
rs200615072	19:39,195,685	G/A	—	likely benign
rs2368475	19:39,195,735	C/T	—	likely benign
rs141476190	19:39,195,795	A/G	—	likely benign
rs17589415	19:39,196,531	C/T	—	benign
rs202069899	19:39,196,670	T/A	—	likely benign
rs377717555	19:39,196,691	G/A	—	likely benign
rs2515200645	19:39,196,692	G/A	—	likely pathogenic
rs754477143	19:39,196,696	A/G	—	uncertain significance
rs2515200704	19:39,196,705	T/G	—	likely pathogenic
rs2515200807	19:39,196,716	T/C	—	likely pathogenic
rs149027682	19:39,196,735	C/T	—	likely benign
rs11553600	19:39,196,736	G/A	—	benign
rs3745859	19:39,196,745	C/T	—	benign
rs202126611	19:39,196,750	A/G	—	uncertain significance
rs2145014279	19:39,196,761	T/C	—	drug response
rs761831106	19:39,196,778	G/A	—	likely benign
rs60710743	19:39,196,782	G/A	—	benign
rs2515201174	19:39,196,788	G/A	—	uncertain significance
rs749612778	19:39,198,757	C/T	—	uncertain significance
rs878853159	19:39,198,768	G/A	missense variant	pathogenic
rs2515210564	19:39,198,792	A/C	—	likely pathogenic
rs2515210746	19:39,198,815	G/A	—	uncertain significance
rs58568088	19:39,199,836	G/A	—	benign
rs115496833	19:39,199,873	C/G	—	likely benign
rs56737532	19:39,199,980	G/T	—	benign
rs45561939	19:39,199,998	G/A	—	benign
rs58197765	19:39,200,001	G/T	—	benign
rs1968566432	19:39,200,025	C/A	—	likely benign
rs201630706	19:39,200,032	T/C	—	uncertain significance
rs1228776619	19:39,200,038	G/A	—	uncertain significance
rs1968567859	19:39,200,058	C/A	—	uncertain significance
rs763760070	19:39,200,067	C/T	—	likely benign
rs756768920	19:39,200,097	C/T	—	likely benign
rs2515217834	19:39,200,101	A/G	—	likely pathogenic

Showing 100 of 346 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.