WWOX

WW domain containing oxidoreductase

Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants804 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1022097416:78,132,274T/Cregulatory region variant—
rs7701833416:78,133,123T/C—benign
rs53769322716:78,133,216C/T—uncertain significance
rs14143837216:78,133,245C/T—likely benign
rs37706640016:78,133,637A/T—likely benign
rs54425066116:78,133,642G/A—likely benign
rs57097889116:78,133,649G/C—likely benign
rs77377235016:78,133,651G/A—likely benign
rs1154502816:78,133,671C/Tregulatory region variantbenign
rs250712514316:78,133,676A/C—pathogenic
rs75858868416:78,133,677T/C—pathogenic
rs133630014816:78,133,682G/A—uncertain significance
rs124115700116:78,133,683C/T—uncertain significance
rs77803624716:78,133,684G/C—likely benign
rs75173361016:78,133,685C/G—uncertain significance
rs250712529516:78,133,686T/G—uncertain significance
rs215165164316:78,133,687G/A—likely benign
rs203162533116:78,133,690C/G—likely benign
rs123949709616:78,133,691T/C—uncertain significance
rs86878139516:78,133,693C/T—likely benign
rs37139260016:78,133,694G/A—uncertain significance
rs96028464416:78,133,699G/A—likely benign
rs78118047316:78,133,703G/C—uncertain significance
rs37314672316:78,133,705C/T—likely benign
rs159718962416:78,133,707A/T—uncertain significance
rs156756724916:78,133,710C/G—conflicting classifications of pathogenicity
rs143860221016:78,133,711G/C—likely benign
rs77031991916:78,133,720G/T—uncertain significance
rs78034531216:78,133,724G/A—conflicting classifications of pathogenicity
rs99177340216:78,133,726G/T—uncertain significance
rs77655327916:78,133,727C/A—uncertain significance
rs76824033816:78,133,733C/T—uncertain significance
rs76163811616:78,133,734C/T—uncertain significance
rs37616556516:78,133,735G/C—likely benign
rs131418895316:78,133,738C/T—likely benign
rs123140390916:78,133,741G/T—uncertain significance
rs250712610916:78,133,744G/A—likely benign
rs125560187316:78,133,747G/A—likely benign
rs76149322916:78,133,753C/T—likely benign
rs145766053616:78,133,756C/A—likely benign
rs77172631716:78,133,757A/C—uncertain significance
rs77283902216:78,133,765C/T—likely benign
rs203163572816:78,133,769G/A—uncertain significance
rs76076288716:78,133,774C/T—likely benign
rs76630988216:78,133,776A/G—uncertain significance
rs129519816816:78,133,777C/A—likely pathogenic
rs138515592616:78,133,781A/G—uncertain significance
rs131648911916:78,133,782A/T—uncertain significance
rs130092464816:78,133,783G/A—pathogenic
rs127665764716:78,133,788G/A—uncertain significance
rs121490339716:78,133,792C/T—likely benign
rs75362662216:78,133,794G/T—likely benign
rs37394482916:78,133,795C/T—likely benign
rs250712682016:78,133,797G/A—likely benign
rs131373475416:78,133,798T/G—likely benign
rs126199468816:78,133,799G/C—likely benign
rs14630145316:78,133,800G/A—likely benign
rs5810892116:78,134,034C/T—likely benign
rs14113952816:78,142,025A/T—likely benign
rs7356277516:78,142,149C/G—benign
rs11442253516:78,142,151A/G—likely benign
rs488793716:78,142,209T/C—benign
rs7929421116:78,142,244A/G—benign
rs11449121516:78,142,278T/A—likely benign
rs76021073516:78,142,300G/A—likely benign
rs203228483216:78,142,301A/T—likely benign
rs118799052116:78,142,306T/C—likely benign
rs6749335516:78,142,308G/C—likely benign
rs215166563216:78,142,313T/C—likely benign
rs116396782716:78,142,317C/T—uncertain significance
rs159720780216:78,142,318A/T—likely pathogenic
rs77065345116:78,142,321C/G—uncertain significance
rs37263527016:78,142,326C/T—likely benign
rs36824502516:78,142,329G/A—likely benign
rs77834649016:78,142,331A/G—uncertain significance
rs128488350516:78,142,339C/T—pathogenic
rs75438483416:78,142,340A/G—uncertain significance
rs105751784616:78,142,343G/Astop gainedpathogenic
rs155553507216:78,142,344G/A—pathogenic
rs159720787116:78,142,348C/T—likely pathogenic
rs77949099716:78,142,350T/C—likely benign
rs58777712816:78,142,351C/Amissense variantpathogenic
rs73088029216:78,142,352C/Gmissense variantpathogenic
rs250717871716:78,142,358C/G—uncertain significance
rs203229276316:78,142,364A/G—uncertain significance
rs58777724816:78,142,372C/Asynonymous variantlikely benign
rs54315405316:78,142,373G/A—uncertain significance
rs141520724316:78,142,375G/C—uncertain significance
rs77594467316:78,142,376T/G—uncertain significance
rs250717889916:78,142,377G/A—likely benign
rs53091255016:78,142,379C/T—uncertain significance
rs113169128516:78,142,384G/A—likely pathogenic
rs137764018216:78,142,385G/C—pathogenic
rs250717898916:78,142,389G/A—uncertain significance
rs130785373516:78,142,391A/G—likely benign
rs122064741616:78,142,393G/A—likely benign
rs203229581416:78,142,394T/A—likely benign
rs37215154516:78,142,399G/T—likely benign
rs250717912616:78,142,401C/G—likely benign
rs119897533816:78,142,403A/G—likely benign

Showing 100 of 804 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.