RSPO2

R-spondin 2

Summary

This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants70 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14761864108:108,913,306T/C—likely benign
rs3772343558:108,913,312A/G—likely benign
rs3707362918:108,913,314C/T—uncertain significance
rs7612376468:108,913,335C/T—uncertain significance
rs7670454138:108,913,336G/A—likely benign
rs25371993458:108,913,337C/A—uncertain significance
rs5649254168:108,913,338T/C—uncertain significance
rs3684945938:108,913,342T/C—likely benign
rs7774237148:108,913,352G/A—uncertain significance
rs13376391048:108,913,356T/C—uncertain significance
rs18114469268:108,913,369C/T—likely benign
rs7765709958:108,913,399C/T—likely benign
rs10236484558:108,913,409G/A—uncertain significance
rs1126331878:108,913,437A/G—likely benign
rs5576068:108,931,016A/Gintron variant—
rs10988158:108,938,899G/T——
rs25372944218:108,970,329T/C—uncertain significance
rs346278318:108,970,336G/A—benign
rs6015588:108,970,367A/G—benign
rs7661589538:108,970,374T/C—uncertain significance
rs1511658978:108,970,375G/A—likely benign
rs7548514588:108,970,377C/T—uncertain significance
rs18134898888:108,970,399T/C—likely benign
rs14261520368:108,970,426T/C—likely benign
rs25372948408:108,970,447A/G—likely benign
rs1401252938:108,970,470C/T—uncertain significance
rs5437393508:108,970,472C/T—uncertain significance
rs1477560168:108,970,478T/A—likely benign
rs25372949108:108,970,480A/G—likely benign
rs13743997698:108,972,891A/G—likely benign
rs9388975318:108,972,913A/G—uncertain significance
rs3731511358:108,972,914T/C—uncertain significance
rs15545768888:108,972,920C/A—pathogenic
rs1426490568:108,972,931G/A—uncertain significance
rs8675803518:108,972,965C/T—uncertain significance
rs7563597488:108,972,968T/C—uncertain significance
rs7804375598:108,972,972C/T—likely benign
rs7497041658:108,972,981G/C—likely benign
rs13162691078:108,973,029G/A—likely benign
rs5685839948:108,973,044T/C—likely benign
rs24370048:108,977,050A/T——
rs1146454398:109,001,198T/A—benign
rs9629704628:109,001,284T/C—uncertain significance
rs11934757678:109,001,288A/G—likely benign
rs25373434548:109,001,289C/T—uncertain significance
rs21305248288:109,001,307G/A—uncertain significance
rs7732971608:109,001,311G/A—pathogenic
rs7552563688:109,001,327G/A—benign
rs7588881378:109,001,362G/Amissense variantpathogenic
rs25373435828:109,001,364A/C—uncertain significance
rs1823345378:109,001,376C/T—uncertain significance
rs25373437488:109,001,419T/A—uncertain significance
rs37392438:109,001,626G/T—benign
rs125503388:109,023,376A/G——
rs1829732858:109,046,548C/Tregulatory region variant—
rs78419498:109,068,624A/Tintron variant—
rs132531178:109,082,646G/Aintron variant—
rs346579118:109,093,743G/Aintron variant—
rs109554758:109,094,747C/T—benign
rs24879486578:109,094,756G/A—likely benign
rs5759541908:109,094,783G/A—likely benign
rs5417700558:109,094,795G/C—uncertain significance
rs24879488678:109,094,802T/C—uncertain significance
rs7689800148:109,094,810G/A—likely benign
rs18132437928:109,094,827T/G—uncertain significance
rs18132440798:109,094,833T/C—uncertain significance
rs13055884148:109,094,837G/A—likely benign
rs1824232068:109,094,872C/T—likely benign
rs1127693148:109,095,004T/C—benign
rs3748108:109,096,029G/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.