SVIL

supervillin

Summary

This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]

Known Variants295 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249165247810:29,747,219G/A—uncertain significance
rs14777163110:29,747,220C/T—uncertain significance
rs4129921210:29,747,221G/A—benign
rs20036435310:29,747,261A/G—uncertain significance
rs236840910:29,747,315C/T—benign
rs77661157410:29,747,365C/T—uncertain significance
rs14702033610:29,747,377C/T—uncertain significance
rs123341887710:29,747,378G/A—likely benign
rs20055585310:29,747,415T/G—uncertain significance
rs188746510:29,747,417C/T—benign
rs74540867410:29,747,437G/A—uncertain significance
rs19958495410:29,747,440C/T—uncertain significance
rs14084446910:29,747,447C/T—likely benign
rs37032574410:29,747,473C/T—uncertain significance
rs13819016610:29,747,480G/A—benign
rs709852710:29,747,618T/A—benign
rs1277796810:29,751,092G/C—benign
rs54066029910:29,751,196G/A—likely benign
rs91608006810:29,751,255A/G—uncertain significance
rs75111388610:29,751,261G/A—uncertain significance
rs14130321310:29,751,290G/A—benign
rs14493949210:29,751,307G/T—uncertain significance
rs13883847910:29,751,322G/C—uncertain significance
rs209420410:29,751,468C/T—benign
rs228194510:29,752,211T/G—benign
rs92763208210:29,752,475G/A—uncertain significance
rs5602264310:29,752,485G/A—likely benign
rs15067174410:29,752,498T/G—uncertain significance
rs117941350110:29,752,529G/A—uncertain significance
rs77469948510:29,752,535C/T—uncertain significance
rs7774579010:29,752,680A/G—benign
rs18795265910:29,754,509C/T—likely benign
rs1769473910:29,754,535G/A—benign
rs11154820410:29,754,543C/T—benign
rs105795210:29,754,609T/C—benign
rs37617233910:29,754,623C/T—uncertain significance
rs792130610:29,754,644T/C—benign
rs13880526610:29,754,659C/G—uncertain significance
rs5624845610:29,754,675A/G—benign
rs374000510:29,756,459C/G—benign
rs141808552010:29,756,755C/T—uncertain significance
rs194510225910:29,756,790G/C—uncertain significance
rs474943410:29,757,036C/T—benign
rs1100760710:29,759,225G/A—benign
rs76785773610:29,759,227C/T—uncertain significance
rs14433474010:29,759,299C/T—uncertain significance
rs14836072910:29,759,334C/T—uncertain significance
rs37683816610:29,759,352A/C—uncertain significance
rs249172260910:29,759,382T/C—uncertain significance
rs115716177310:29,759,388C/T—uncertain significance
rs227449210:29,759,427G/A—benign
rs227449310:29,759,434C/T—benign
rs790365310:29,759,592G/A—benign
rs120472460710:29,760,106G/T—uncertain significance
rs37627980810:29,760,121C/T—uncertain significance
rs227449410:29,760,209C/T—benign
rs1276917610:29,762,606C/T—benign
rs228194810:29,762,656G/A—benign
rs37360715610:29,762,798G/A—uncertain significance
rs77284053910:29,762,801A/G—uncertain significance
rs36887855710:29,762,813G/A—uncertain significance
rs74630963710:29,762,840C/T—uncertain significance
rs76829069310:29,762,841G/A—uncertain significance
rs77064985110:29,762,863G/A—benign
rs14035973410:29,762,877C/T—uncertain significance
rs14367308510:29,762,889C/T—uncertain significance
rs75098526310:29,762,901C/T—uncertain significance
rs249174333210:29,762,905C/G—uncertain significance
rs92423657510:29,762,910G/C—uncertain significance
rs93279410:29,762,997C/T—benign
rs1693025210:29,763,080G/A—benign
rs648159710:29,769,288C/T—benign
rs37313383710:29,769,481T/C—uncertain significance
rs77984574110:29,769,544G/A—uncertain significance
rs76813145210:29,769,583C/T—uncertain significance
rs6173792010:29,769,589T/C—benign
rs74930135710:29,769,646C/T—uncertain significance
rs1076372010:29,769,647G/A—benign
rs14109161410:29,769,649C/T—uncertain significance
rs54947049010:29,769,651T/A—uncertain significance
rs37298545910:29,769,681G/A—uncertain significance
rs13921915810:29,769,703G/A—uncertain significance
rs14317819010:29,769,705G/A—conflicting classifications of pathogenicity
rs249178860510:29,769,743C/T—likely pathogenic
rs20008785110:29,770,536G/A—uncertain significance
rs1100761210:29,770,551A/G—benign
rs249179749810:29,770,614T/G—uncertain significance
rs14272205710:29,770,773G/A—benign
rs1076372110:29,770,786G/A—benign
rs13947356710:29,773,471G/A—benign
rs15080577010:29,773,593A/G—likely benign
rs75767874110:29,773,612G/A—uncertain significance
rs75445865710:29,773,628T/C—uncertain significance
rs2845102810:29,773,651G/C—benign
rs37716154810:29,773,727C/T—uncertain significance
rs75312106210:29,773,728G/T—pathogenic
rs389618410:29,773,958C/T—benign
rs3451836810:29,774,905C/T—benign
rs20110529510:29,775,125T/C—likely benign
rs6173342410:29,775,132A/C—benign

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.