ACTB

actin beta

Summary

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

Known Variants415 total

rsidPosition (GRCh37)AllelesClassClinVar
rs115469057:5,567,099C/T—likely benign
rs76127:5,567,112T/C—benign
rs115469067:5,567,119C/T—likely benign
rs14213399287:5,567,254C/A—benign
rs7743739857:5,567,382G/A—conflicting classifications of pathogenicity
rs21282411517:5,567,385G/A—likely benign
rs25338457117:5,567,386C/T—uncertain significance
rs15543290687:5,567,390T/A—pathogenic
rs17847969527:5,567,391G/A—likely benign
rs21282411527:5,567,392C/T—uncertain significance
rs25338457407:5,567,396G/A—uncertain significance
rs25338457507:5,567,398A/C—uncertain significance
rs715313217:5,567,400G/A—likely benign
rs5278953757:5,567,406G/C—likely benign
rs7609362737:5,567,412G/A—likely benign
rs25338458017:5,567,413G/C—uncertain significance
rs3683526897:5,567,417C/Tmissense variantpathogenic
rs3708484177:5,567,418G/A—likely benign
rs25338458327:5,567,422T/C—uncertain significance
rs15627186467:5,567,426C/T—uncertain significance
rs7674208997:5,567,433G/A—likely benign
rs21282411707:5,567,441A/G—conflicting classifications of pathogenicity
rs21282411767:5,567,448C/T—likely benign
rs25338458937:5,567,449T/G—uncertain significance
rs7580259417:5,567,451G/A—likely benign
rs17847979757:5,567,454G/A—likely benign
rs21282411797:5,567,460C/T—likely benign
rs15842611777:5,567,462G/C—likely pathogenic
rs134474097:5,567,463C/T—likely benign
rs8860413097:5,567,464G/A—pathogenic
rs1906424917:5,567,466G/A—benign
rs10575247837:5,567,479C/T—uncertain significance
rs7809692617:5,567,481G/A—likely benign
rs587044747:5,567,484G/A—benign
rs8860413057:5,567,486T/C—likely pathogenic
rs8860417907:5,567,487C/Gmissense variantpathogenic
rs2014169787:5,567,490C/G—benign
rs10647907:5,567,493G/A—likely benign
rs15543291137:5,567,494G/A—likely pathogenic
rs7481947567:5,567,496G/A—likely benign
rs17847990097:5,567,503C/G—uncertain significance
rs17847990387:5,567,504G/A—likely pathogenic
rs12515370107:5,567,511A/C—likely benign
rs1829435087:5,567,528G/A—likely benign
rs17847995227:5,567,529A/T—likely benign
rs7665423637:5,567,530G/A—likely benign
rs1389102877:5,567,531G/A—benign
rs3678815837:5,567,532G/A—likely benign
rs7658111407:5,567,535G/A—likely benign
rs3717248797:5,567,537G/A—likely benign
rs13696848117:5,567,538G/A—likely benign
rs2009011237:5,567,560T/C—benign
rs8524247:5,567,596T/C—benign
rs12831390417:5,567,616A/T—likely benign
rs7671665817:5,567,619C/G—likely benign
rs3725511927:5,567,620A/G—likely benign
rs25338464297:5,567,625A/T—likely benign
rs7491139627:5,567,626G/A—likely benign
rs8789711837:5,567,632C/T—uncertain significance
rs7548628027:5,567,635C/T—uncertain significance
rs14754881717:5,567,653G/A—likely benign
rs17848028257:5,567,654G/C—likely pathogenic
rs14199255517:5,567,664C/A—uncertain significance
rs134474087:5,567,668G/A—benign
rs11624551797:5,567,671C/T—likely benign
rs115469397:5,567,677C/T—benign
rs15842615087:5,567,685T/G—likely benign
rs17848034327:5,567,688C/G—likely pathogenic
rs347923887:5,567,689G/A—conflicting classifications of pathogenicity
rs5398319387:5,567,694T/A—uncertain significance
rs15842615297:5,567,695G/A—likely benign
rs17848037887:5,567,705A/G—uncertain significance
rs25338465927:5,567,714C/G—pathogenic
rs134474077:5,567,716G/A—likely benign
rs134474067:5,567,719A/C—likely benign
rs25338466067:5,567,721A/G—uncertain significance
rs3711535067:5,567,728T/C—likely benign
rs7634303717:5,567,729G/A—uncertain significance
rs7691824267:5,567,731G/C—likely pathogenic
rs25338466377:5,567,733T/C—uncertain significance
rs12139937117:5,567,734G/A—likely benign
rs7747588017:5,567,737G/A—likely benign
rs17848045787:5,567,739A/C—uncertain significance
rs14829018617:5,567,742G/A—likely benign
rs7668807637:5,567,743G/T—uncertain significance
rs7499405567:5,567,746T/C—likely benign
rs10575178887:5,567,751G/Amissense variantpathogenic
rs7660440907:5,567,755G/A—likely benign
rs21282412387:5,567,759A/G—uncertain significance
rs1501051667:5,567,761G/A—likely benign
rs7548100187:5,567,785G/T—likely benign
rs21282412417:5,567,791T/G—uncertain significance
rs15543292167:5,567,793C/T—pathogenic
rs3733621077:5,567,794G/C—uncertain significance
rs3773901407:5,567,797G/T—likely benign
rs13565781227:5,567,800G/A—likely benign
rs25338467827:5,567,805A/G—likely pathogenic
rs3708428867:5,567,806G/C—likely benign
rs17848055287:5,567,807G/A—uncertain significance
rs7459737457:5,567,809C/G—uncertain significance

Showing 100 of 415 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.