ZFHX3

zinc finger homeobox 3

Summary

This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Known Variants373 total

rsidPosition (GRCh37)AllelesClassClinVar
rs125618097316:72,821,127T/G—uncertain significance
rs137472677016:72,821,200C/T—uncertain significance
rs76934487216:72,821,201G/A—likely benign
rs90746949016:72,821,254C/T—uncertain significance
rs19987355916:72,821,303A/G—benign
rs20208731716:72,821,322G/A—uncertain significance
rs76083276816:72,821,334C/G—uncertain significance
rs138561126516:72,821,343T/A—uncertain significance
rs20099248616:72,821,344G/A—benign
rs56084075716:72,821,345G/C—benign
rs130509774616:72,821,376G/A—uncertain significance
rs116304602516:72,821,381A/C—likely benign
rs76445900516:72,821,393G/C—uncertain significance
rs203546060316:72,821,490G/C—uncertain significance
rs76216071516:72,821,526G/A—uncertain significance
rs78004479316:72,821,547G/C—uncertain significance
rs78118418616:72,821,592G/C—uncertain significance
rs134551067816:72,821,596C/A—uncertain significance
rs11244384716:72,821,618A/G—likely benign
rs140697873216:72,821,626C/T—uncertain significance
rs54429633316:72,821,636A/G—likely benign
rs20056113316:72,821,638T/C—benign
rs36761029316:72,821,642A/G—likely benign
rs20197830016:72,821,656C/G—benign
rs36937905216:72,821,691A/T—uncertain significance
rs76060689316:72,821,705G/C—uncertain significance
rs76771159616:72,821,718G/A—uncertain significance
rs37109052216:72,821,735C/T—likely benign
rs203549817516:72,821,739G/T—uncertain significance
rs15089190116:72,821,760G/A—uncertain significance
rs37613081016:72,821,773G/A—uncertain significance
rs74544354516:72,821,875G/C—uncertain significance
rs77655884816:72,821,889C/T—uncertain significance
rs37504983316:72,821,892G/C—uncertain significance
rs55614545016:72,821,896T/G—uncertain significance
rs11752375216:72,821,916C/T—likely benign
rs120200146516:72,821,934G/T—uncertain significance
rs132862201516:72,821,953G/C—likely benign
rs19063038016:72,821,960G/C—benign
rs15006408716:72,821,965G/A—uncertain significance
rs76912248216:72,821,979C/G—uncertain significance
rs53869715116:72,822,156C/T—uncertain significance
rs19163258116:72,822,246T/C—uncertain significance
rs222819916:72,822,296G/A—benign
rs57686969516:72,822,309T/C—uncertain significance
rs89925101616:72,822,343T/A—uncertain significance
rs6263999316:72,822,351G/A—conflicting classifications of pathogenicity
rs125249502016:72,822,517G/A—uncertain significance
rs75312412316:72,822,522G/A—uncertain significance
rs148718541616:72,822,524C/G—uncertain significance
rs14296049616:72,822,540G/T—uncertain significance
rs14146138516:72,822,585T/A—uncertain significance
rs14684901316:72,822,591G/A—likely benign
rs2859288816:72,822,593T/C—likely benign
rs14913328516:72,822,645G/A—likely benign
rs7584862116:72,822,692G/A—likely benign
rs54456879216:72,822,706T/G—uncertain significance
rs19956722716:72,822,716A/G—likely benign
rs37503934716:72,827,231G/A—uncertain significance
rs137726790716:72,827,285C/T—uncertain significance
rs76913389316:72,827,334G/A—uncertain significance
rs143566609516:72,827,340A/G—likely benign
rs13910756816:72,827,358A/G—likely benign
rs77378546916:72,827,544C/G—uncertain significance
rs138434094916:72,827,663A/G—uncertain significance
rs69944416:72,827,758T/C—benign
rs250738200716:72,827,775T/G—uncertain significance
rs76230206816:72,827,792G/A—likely benign
rs142502118416:72,827,793C/T—uncertain significance
rs14293923516:72,827,874T/C—likely benign
rs36909376416:72,827,909G/A—uncertain significance
rs214339284416:72,827,936G/A—uncertain significance
rs77484826516:72,828,033C/T—uncertain significance
rs145070126416:72,828,042T/C—uncertain significance
rs250738496316:72,828,107A/C—uncertain significance
rs14405696616:72,828,119A/C—uncertain significance
rs203581839016:72,828,131G/C—benign
rs14787700816:72,828,189T/A—uncertain significance
rs74645816816:72,828,209G/C—uncertain significance
rs75937593916:72,828,235A/C—likely benign
rs222928916:72,828,265G/A—benign
rs14595610216:72,828,279T/A—benign
rs77067530316:72,828,303T/C—uncertain significance
rs222928816:72,828,304C/A—benign
rs76267070216:72,828,333T/C—uncertain significance
rs222928716:72,828,334C/T—benign
rs250738684216:72,828,345T/C—uncertain significance
rs75083808016:72,828,389C/T—uncertain significance
rs222928616:72,828,403A/G—benign
rs74921377316:72,828,428G/A—uncertain significance
rs13982131216:72,828,461G/A—uncertain significance
rs76473838816:72,828,471C/T—uncertain significance
rs214340508516:72,828,579G/A—likely pathogenic
rs126785467116:72,828,666G/C—uncertain significance
rs117428060416:72,828,668G/A—uncertain significance
rs138765029516:72,828,764G/C—uncertain significance
rs14767286116:72,828,867T/C—benign
rs14156420116:72,828,890T/C—benign
rs76072862716:72,829,062G/T—uncertain significance
rs36907370816:72,829,082C/G—uncertain significance

Showing 100 of 373 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.