ITCH

itchy E3 ubiquitin protein ligase

Summary

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

Known Variants400 total

rsidPosition (GRCh37)AllelesClassClinVar
rs818473020:32,952,528T/A——
rs818331620:32,952,530C/A——
rs203857138320:32,981,620G/A—likely pathogenic
rs124503408220:32,981,622C/G—uncertain significance
rs203857162720:32,981,626C/T—likely benign
rs76401620720:32,981,627A/G—uncertain significance
rs214607591420:32,981,628G/A—uncertain significance
rs119437736320:32,981,630G/A—uncertain significance
rs75141454920:32,981,634C/T—uncertain significance
rs76157537820:32,981,638A/G—likely benign
rs203857242520:32,981,642G/C—uncertain significance
rs203857267120:32,981,645T/A—uncertain significance
rs56718026120:32,981,650G/A—uncertain significance
rs75567572320:32,981,652G/A—uncertain significance
rs77540566020:32,981,655G/C—uncertain significance
rs214607611920:32,981,667A/C—uncertain significance
rs203857469420:32,981,703A/G—likely benign
rs36784002620:32,981,705C/T—likely benign
rs37137224820:32,981,706G/C—likely benign
rs76436106020:32,985,072C/T—likely benign
rs14019291120:32,985,111G/A—benign
rs608757920:32,985,155A/G—benign
rs6221217120:32,987,687T/Cdownstream gene variant—
rs75451175020:32,996,441C/T—likely benign
rs37394000720:32,996,469A/G—uncertain significance
rs214614586420:32,996,473T/G—likely benign
rs214614593820:32,996,490A/G—uncertain significance
rs197850176020:32,996,493G/T—uncertain significance
rs36804400120:32,996,503A/G—likely benign
rs78135177920:32,996,513G/T—uncertain significance
rs105752017220:32,996,517A/G—uncertain significance
rs139142303720:32,996,518G/A—likely benign
rs19951305120:32,996,527A/G—likely benign
rs76868305920:32,996,536G/A—likely benign
rs14429371620:32,996,559A/G—likely benign
rs251552045320:32,996,580G/A—pathogenic
rs118175558420:32,996,587A/G—likely benign
rs251552051020:32,996,589C/T—uncertain significance
rs197851618620:32,996,591C/T—uncertain significance
rs141356130520:32,996,596A/G—likely benign
rs197851766720:32,996,601A/G—uncertain significance
rs37239396420:32,996,605T/G—likely benign
rs376114720:32,996,689G/T—benign
rs77195853220:33,000,301C/A—likely benign
rs117048450020:33,000,303C/A—likely benign
rs129798593720:33,000,313A/T—likely benign
rs75342214220:33,000,324C/T—likely benign
rs77644545720:33,000,325G/A—uncertain significance
rs53448752520:33,000,336G/C—likely benign
rs197918727920:33,000,342A/G—likely benign
rs56496405220:33,000,346C/T—uncertain significance
rs53232233120:33,000,352C/G—uncertain significance
rs76795050820:33,000,353G/A—uncertain significance
rs376114620:33,000,354T/C—benign
rs13792591520:33,000,405A/G—likely benign
rs251553985520:33,000,413T/C—uncertain significance
rs97919401120:33,000,423A/G—likely benign
rs20114923820:33,000,437A/G—uncertain significance
rs120017743320:33,000,438T/C—likely benign
rs14069220820:33,000,444A/G—uncertain significance
rs19994708520:33,000,445C/T—uncertain significance
rs251554014420:33,000,449T/C—uncertain significance
rs251554744020:33,001,531A/C—likely benign
rs160184134620:33,001,560T/C—uncertain significance
rs18389315720:33,001,595A/T—uncertain significance
rs251554862920:33,001,610G/C—uncertain significance
rs37382912720:33,001,618A/G—likely benign
rs13845140020:33,001,619A/G—uncertain significance
rs75986875020:33,001,628G/A—uncertain significance
rs18873625320:33,001,634C/T—likely benign
rs197940813120:33,001,638A/T—uncertain significance
rs75145615220:33,001,662A/G—uncertain significance
rs86836152420:33,001,675A/G—likely benign
rs14962527820:33,001,677G/A—conflicting classifications of pathogenicity
rs141676760320:33,001,697C/T—likely benign
rs251554961220:33,001,700T/C—likely benign
rs86430957320:33,004,923A/T—uncertain significance
rs53051045620:33,005,028G/A—likely benign
rs36999879020:33,012,268T/C—likely benign
rs251560448320:33,012,276G/T—likely benign
rs160186741820:33,012,287T/C—likely benign
rs74773018720:33,012,299T/C—likely benign
rs77714342620:33,012,302T/C—likely benign
rs37375178720:33,012,305T/A—uncertain significance
rs214622032920:33,012,306G/A—uncertain significance
rs77598748220:33,012,323T/C—likely benign
rs125523548120:33,012,340T/C—likely benign
rs142739733620:33,012,346A/G—likely benign
rs605804120:33,018,008A/G—benign
rs74970148420:33,026,265C/G—likely benign
rs198331734420:33,026,266T/G—likely benign
rs77464819620:33,026,271T/C—likely benign
rs76206157420:33,026,274C/T—likely benign
rs53904994120:33,026,280G/A—uncertain significance
rs89667009120:33,026,282G/T—likely benign
rs251566476720:33,026,291T/G—uncertain significance
rs147288869520:33,026,294A/G—likely benign
rs20050631020:33,026,298G/C—conflicting classifications of pathogenicity
rs251566483920:33,026,317G/T—uncertain significance
rs36854413120:33,026,323G/T—uncertain significance

Showing 100 of 400 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.