RNF43

ring finger protein 43

Summary

The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

Known Variants576 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11580305817:56,432,088G/A—likely benign
rs214336468817:56,432,305C/T—likely benign
rs214336474117:56,432,310A/G—likely benign
rs250932802517:56,432,313C/T—likely benign
rs3544551617:56,432,318C/G—uncertain significance
rs250932805617:56,432,322C/G—likely benign
rs77134927917:56,432,330C/T—uncertain significance
rs20049630017:56,432,331G/A—likely benign
rs214336498617:56,432,337C/G—uncertain significance
rs214336503317:56,432,343T/G—likely benign
rs89775696917:56,432,351T/A—likely benign
rs250932817517:56,432,359G/A—likely benign
rs215846017:56,432,362C/T—likely benign
rs215845917:56,432,376G/A—benign
rs214338302417:56,434,828C/A—likely pathogenic
rs76945019217:56,434,832G/C—uncertain significance
rs120363341917:56,434,839C/T—likely benign
rs77278332117:56,434,840G/A—uncertain significance
rs74881365417:56,434,843A/G—conflicting classifications of pathogenicity
rs214338389617:56,434,850G/A—uncertain significance
rs56421530017:56,434,851G/C—uncertain significance
rs75948091417:56,434,853A/G—uncertain significance
rs6174627917:56,434,857T/C—likely benign
rs76042615817:56,434,858G/A—uncertain significance
rs156787245917:56,434,860A/G—likely benign
rs145047653617:56,434,861T/C—uncertain significance
rs75406453117:56,434,869T/C—likely benign
rs75732415617:56,434,870G/C—uncertain significance
rs214338476917:56,434,873C/T—uncertain significance
rs76522992017:56,434,875G/A—uncertain significance
rs11555353917:56,434,876C/G—likely benign
rs74737113717:56,434,883C/T—conflicting classifications of pathogenicity
rs75535079617:56,434,884G/A—likely benign
rs77747144117:56,434,889C/G—uncertain significance
rs197271221717:56,434,894C/T—uncertain significance
rs37070323317:56,434,903G/A—conflicting classifications of pathogenicity
rs214338594017:56,434,906G/C—uncertain significance
rs77071257117:56,434,911C/T—likely benign
rs75969094317:56,434,919G/A—uncertain significance
rs197271384417:56,434,924T/C—uncertain significance
rs142039979417:56,434,932C/A—likely benign
rs77209660917:56,434,942C/T—conflicting classifications of pathogenicity
rs77533599717:56,434,943G/A—uncertain significance
rs77310739017:56,434,953G/A—likely benign
rs214338815017:56,434,977T/A—likely benign
rs197271571317:56,434,983A/G—likely benign
rs214338840217:56,434,987G/C—uncertain significance
rs76546459117:56,434,990C/A—uncertain significance
rs214338859017:56,434,991C/T—uncertain significance
rs103585887517:56,434,998T/A—uncertain significance
rs76306349417:56,434,999T/C—uncertain significance
rs105457059417:56,435,002G/A—uncertain significance
rs214338902317:56,435,003G/T—uncertain significance
rs76689042117:56,435,008A/T—uncertain significance
rs97299626317:56,435,011C/A—uncertain significance
rs214338931817:56,435,013C/T—likely benign
rs197271782517:56,435,029G/A—uncertain significance
rs197271798717:56,435,035C/G—uncertain significance
rs214339010217:56,435,037G/C—uncertain significance
rs197271823417:56,435,044G/A—uncertain significance
rs19991634517:56,435,046G/A—conflicting classifications of pathogenicity
rs56282897817:56,435,047T/C—uncertain significance
rs75311958917:56,435,048G/A—uncertain significance
rs214339064117:56,435,049T/C—likely benign
rs75692279217:56,435,051C/T—uncertain significance
rs214339084417:56,435,055T/C—likely benign
rs123253869417:56,435,069A/G—uncertain significance
rs965285517:56,435,080G/C—benign
rs123643505917:56,435,081G/T—uncertain significance
rs3446465217:56,435,083G/T—conflicting classifications of pathogenicity
rs214339218917:56,435,098A/G—uncertain significance
rs148577235917:56,435,103G/A—likely benign
rs86845697217:56,435,122G/A—conflicting classifications of pathogenicity
rs129781508617:56,435,123C/T—uncertain significance
rs197272173017:56,435,126C/T—uncertain significance
rs197272180617:56,435,128T/C—uncertain significance
rs214339316417:56,435,130G/A—likely benign
rs125469935517:56,435,131G/T—uncertain significance
rs214339323317:56,435,132G/A—uncertain significance
rs18460435917:56,435,134C/T—conflicting classifications of pathogenicity
rs74685461417:56,435,135G/A—conflicting classifications of pathogenicity
rs214339373117:56,435,147T/C—uncertain significance
rs76864859317:56,435,153C/T—uncertain significance
rs37182022117:56,435,154G/A—likely benign
rs117014696517:56,435,155G/A—uncertain significance
rs76997065817:56,435,161C/G—conflicting classifications of pathogenicity
rs214339454617:56,435,165C/T—uncertain significance
rs14209731317:56,435,167C/T—uncertain significance
rs76643978417:56,435,168G/A—conflicting classifications of pathogenicity
rs159812607717:56,435,169C/T—likely benign
rs197272381517:56,435,170C/A—uncertain significance
rs197272407117:56,435,177T/C—uncertain significance
rs136395506517:56,435,182G/T—uncertain significance
rs121276893817:56,435,183G/A—uncertain significance
rs75990305917:56,435,184G/T—uncertain significance
rs214339517017:56,435,186G/T—uncertain significance
rs134834074817:56,435,188C/T—conflicting classifications of pathogenicity
rs37155316017:56,435,189G/A—conflicting classifications of pathogenicity
rs214339559417:56,435,199G/C—uncertain significance
rs75307331117:56,435,202G/C—likely benign

Showing 100 of 576 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.