ACTA2

actin alpha 2, smooth muscle

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 smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]

Known Variants484 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7708688410:90,694,769C/T—likely benign
rs790885210:90,694,793G/T—benign
rs36797768710:90,694,822C/T—likely benign
rs88604745110:90,694,858A/G—uncertain significance
rs14905999510:90,694,875C/A—conflicting classifications of pathogenicity
rs95618252210:90,694,876G/C—uncertain significance
rs88604745210:90,694,937T/C—uncertain significance
rs14300554610:90,694,952T/A—uncertain significance
rs213323761110:90,694,975G/A—uncertain significance
rs249450118910:90,694,977G/A—uncertain significance
rs184571024610:90,694,981T/C—likely benign
rs87885446510:90,694,982A/G—uncertain significance
rs106239910:90,694,983G/A—likely benign
rs137098805510:90,694,993C/T—uncertain significance
rs75716696310:90,694,994G/A—uncertain significance
rs249450143210:90,694,999A/G—uncertain significance
rs77888747210:90,695,002A/G—uncertain significance
rs74986707810:90,695,005G/C—uncertain significance
rs184571124410:90,695,012C/T—conflicting classifications of pathogenicity
rs184571131210:90,695,013G/A—likely benign
rs158938877610:90,695,014G/A—uncertain significance
rs127201516710:90,695,019A/C—uncertain significance
rs74666842810:90,695,021C/T—uncertain significance
rs75469514910:90,695,022G/A—likely benign
rs156464112810:90,695,025T/C—conflicting classifications of pathogenicity
rs77825764710:90,695,027C/G—uncertain significance
rs213323784510:90,695,030G/A—uncertain significance
rs213323786010:90,695,038A/C—likely pathogenic
rs249450184610:90,695,042A/G—uncertain significance
rs249450190010:90,695,047T/C—uncertain significance
rs184571230610:90,695,048G/A—uncertain significance
rs249450197310:90,695,056G/T—uncertain significance
rs158938881110:90,695,061C/A—likely benign
rs11135279010:90,695,067G/A—likely benign
rs249450213210:90,695,070C/G—likely benign
rs158938882610:90,695,073G/A—likely benign
rs77156294310:90,695,084C/T—uncertain significance
rs79472803210:90,695,088C/T—uncertain significance
rs13935278110:90,695,091G/A—likely benign
rs141818798010:90,695,097G/A—likely benign
rs92024372310:90,695,101T/C—uncertain significance
rs249450249510:90,695,104C/T—uncertain significance
rs184571374510:90,695,105G/A—uncertain significance
rs77206706510:90,695,107T/C—uncertain significance
rs156464119210:90,695,108C/G—uncertain significance
rs77574205210:90,695,109C/T—uncertain significance
rs249450259710:90,695,110G/A—uncertain significance
rs105751892910:90,695,111G/C—uncertain significance
rs131414433010:90,695,119A/G—uncertain significance
rs249450275710:90,695,120T/C—uncertain significance
rs79472803110:90,695,124C/Gcoding sequence variantpathogenic
rs76159996410:90,695,127T/G—conflicting classifications of pathogenicity
rs105752147110:90,695,129A/G—likely benign
rs76510090910:90,695,130G/A—uncertain significance
rs156464123210:90,695,131T/C—likely benign
rs249450304010:90,695,134A/G—likely benign
rs145625160610:90,695,139A/G—likely benign
rs75034953110:90,695,140A/C—likely benign
rs249450312510:90,695,143A/T—likely benign
rs378121210:90,695,243G/A—benign
rs378121110:90,695,265G/T—benign
rs4128410610:90,695,411T/C—benign
rs7856228310:90,697,567T/C—likely benign
rs211968510:90,697,695T/C—benign
rs249451830510:90,697,819T/G—uncertain significance
rs76639396210:90,697,830G/A—likely benign
rs77783279410:90,697,831G/T—uncertain significance
rs128071140110:90,697,832T/C—uncertain significance
rs213324584810:90,697,838G/A—uncertain significance
rs120823510310:90,697,840G/A—uncertain significance
rs158939133010:90,697,842T/G—likely benign
rs184577723110:90,697,844G/A—likely benign
rs184577729210:90,697,845G/A—likely benign
rs76722335610:90,697,846G/C—uncertain significance
rs75242533610:90,697,848C/T—likely benign
rs75765620910:90,697,849G/A—uncertain significance
rs180302710:90,697,850T/G—uncertain significance
rs77718036910:90,697,851G/A—likely benign
rs77911710710:90,697,854C/G—uncertain significance
rs249451881210:90,697,856C/T—uncertain significance
rs1740985810:90,697,857C/T—likely benign
rs184577816510:90,697,861T/A—uncertain significance
rs74676487110:90,697,863C/T—uncertain significance
rs141588808910:90,697,867C/T—pathogenic
rs88603897810:90,697,868G/Astop gainedpathogenic
rs20198101810:90,697,871C/T—uncertain significance
rs20021376410:90,697,872G/A—likely benign
rs184577869810:90,697,875A/G—likely benign
rs138602626610:90,697,879C/T—uncertain significance
rs158939145010:90,697,881A/G—likely benign
rs213324623910:90,697,888A/G—uncertain significance
rs184577918310:90,697,889T/C—uncertain significance
rs132594953210:90,697,891G/T—uncertain significance
rs106479644510:90,697,892T/C—uncertain significance
rs249451920610:90,697,894G/A—uncertain significance
rs184577951410:90,697,897C/T—uncertain significance
rs249451926610:90,697,898C/T—uncertain significance
rs37282407210:90,697,905T/C—likely benign
rs213324636210:90,697,908G/A—likely benign
rs158939150510:90,697,910C/T—uncertain significance

Showing 100 of 484 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.