HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Summary

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

Known Variants213 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7562662676:105,177,569G/A—uncertain significance
rs9031807136:105,177,584G/C—uncertain significance
rs3733709656:105,177,644A/G—likely benign
rs24825001366:105,177,654T/A—likely benign
rs24825087726:105,178,170C/A—likely benign
rs21143404056:105,178,172A/C—uncertain significance
rs24825096986:105,178,200G/T—uncertain significance
rs7540263356:105,178,213T/C—likely benign
rs5648574046:105,178,225G/A—benign
rs7502035736:105,178,279T/C—likely benign
rs43364706:105,180,785C/Tintron variant—
rs624193426:105,189,655T/C——
rs715703146:105,190,082A/G——
rs1165053426:105,192,015A/T—benign
rs3704267516:105,192,016T/C—likely benign
rs24827464196:105,192,017C/T—likely benign
rs17771398586:105,192,018A/G—likely benign
rs3735562856:105,192,030C/T—uncertain significance
rs7773158136:105,192,037G/C—likely benign
rs10142019976:105,192,040C/T—likely benign
rs24827471326:105,192,054A/G—likely benign
rs7457877176:105,192,081T/C—uncertain significance
rs8953544616:105,192,085T/C—likely benign
rs1138754876:105,192,113C/G—likely benign
rs2009345566:105,192,369G/A—likely benign
rs7798768846:105,192,370C/T—likely benign
rs17771930456:105,192,387C/T—uncertain significance
rs24827549876:105,192,407T/C—uncertain significance
rs1492476456:105,192,426T/C—benign
rs7680314436:105,192,432A/G—likely benign
rs7612978466:105,192,439A/G—uncertain significance
rs24827563586:105,192,464G/C—uncertain significance
rs24828288926:105,198,201G/C—likely benign
rs13662420236:105,198,246G/A—likely benign
rs77526146:105,198,267A/G—benign
rs1115988056:105,198,286T/C—uncertain significance
rs11811157046:105,198,309T/C—likely benign
rs8690252816:105,198,317G/Astop gainedpathogenic
rs349796826:105,198,324A/T—benign
rs7791876416:105,198,339G/A—likely benign
rs3748137366:105,198,346G/A—uncertain significance
rs9157322856:105,198,348C/T—likely pathogenic
rs7505175766:105,219,048G/A—likely benign
rs15623312276:105,219,083C/T—likely benign
rs617566606:105,219,179A/G—likely benign
rs24830636086:105,219,230A/T—likely benign
rs12589144826:105,219,277A/G—likely benign
rs77411456:105,219,773T/C—benign
rs7455350266:105,219,789T/C—likely benign
rs24830715386:105,219,799C/T—likely pathogenic
rs14280072906:105,219,803G/C—uncertain significance
rs24830716416:105,219,807G/A—likely benign
rs7617035406:105,219,824G/A—conflicting classifications of pathogenicity
rs7530217566:105,219,860A/G—likely benign
rs12802519446:105,219,861C/T—likely benign
rs7453808896:105,219,889C/T—uncertain significance
rs1401364916:105,219,902A/G—likely benign
rs7618049526:105,219,909A/G—likely benign
rs3762695636:105,219,918A/G—likely benign
rs24830736786:105,219,942A/G—likely benign
rs7337246:105,223,864G/Aintron variant—
rs14318640376:105,224,604T/C—likely benign
rs7518094186:105,224,627——pathogenic
rs12356491166:105,224,629G/C—likely benign
rs12114422906:105,224,648G/A—uncertain significance
rs17812666826:105,224,657A/C—uncertain significance
rs7608882566:105,224,695A/C—likely benign
rs13705389076:105,224,903A/T—uncertain significance
rs17812898956:105,224,914C/T—uncertain significance
rs5522712586:105,224,915A/C—likely benign
rs24831437016:105,224,917C/G—uncertain significance
rs15824181436:105,224,952G/T—pathogenic
rs1499832496:105,224,978A/G—likely benign
rs1452114826:105,224,980T/C—uncertain significance
rs2014656736:105,225,000T/C—likely benign
rs24831483746:105,225,119C/T—uncertain significance
rs24831484306:105,225,121G/A—likely benign
rs1447396826:105,225,128A/G—uncertain significance
rs3718498256:105,225,133T/C—likely benign
rs1476078526:105,225,153G/A—uncertain significance
rs13332737006:105,225,207A/C—likely benign
rs789913906:105,225,212T/C—benign
rs12150946046:105,231,964T/C—likely benign
rs10563470426:105,232,003A/G—likely benign
rs93228176:105,232,233A/Cintron variant—
rs24832465946:105,232,280C/G—likely benign
rs24832470956:105,232,309T/A—uncertain significance
rs7462631006:105,232,315T/G—uncertain significance
rs21147930346:105,232,327G/T—likely pathogenic
rs1421723046:105,232,347G/A—uncertain significance
rs17821269606:105,232,375C/T—likely benign
rs17821273736:105,232,376A/T—likely benign
rs3762624896:105,232,862C/T—likely benign
rs7613365276:105,232,863G/A—uncertain significance
rs1460712966:105,232,866G/A—uncertain significance
rs13377985456:105,232,873G/A—pathogenic
rs2002291346:105,232,879A/T—uncertain significance
rs17821952636:105,232,897C/T—uncertain significance
rs1512197906:105,232,915G/A—likely benign
rs7514017776:105,232,916C/T—likely benign

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.