RXFP2

relaxin family peptide receptor 2

Summary

This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Known Variants74 total

rsidPosition (GRCh37)AllelesClassClinVar
rs250050017613:32,313,808T/G—uncertain significance
rs20066759313:32,313,822A/G—uncertain significance
rs953245613:32,332,112T/C—benign
rs959438213:32,332,217G/A—benign
rs954897713:32,332,292C/G—benign
rs76425549913:32,332,410A/C—uncertain significance
rs77548079913:32,332,433T/C—uncertain significance
rs130698397013:32,332,515G/A—uncertain significance
rs20010533213:32,332,520G/A—uncertain significance
rs148964693813:32,332,527A/G—uncertain significance
rs250052949613:32,332,537C/A—uncertain significance
rs6194656713:32,332,556C/T—benign
rs157131113:32,332,661T/C—benign
rs157131213:32,332,680T/C—benign
rs953247813:32,335,840A/T—benign
rs75833088213:32,335,870G/A—uncertain significance
rs37357022713:32,335,879C/T—uncertain significance
rs953247913:32,335,880A/G—benign
rs153663513:32,336,040C/T—benign
rs953248613:32,339,012G/A—benign
rs143766785913:32,339,200G/A—uncertain significance
rs95024866513:32,339,270T/C—uncertain significance
rs1287053213:32,339,382C/T—benign
rs799133913:32,339,465G/T—benign
rs494372113:32,339,561T/C—benign
rs78016158213:32,340,161A/T—uncertain significance
rs733382913:32,348,573T/C—benign
rs76258534613:32,348,760T/A—uncertain significance
rs75503381113:32,348,821C/A—uncertain significance
rs954904913:32,348,859C/T—benign
rs1707664713:32,348,987C/T—benign
rs384810013:32,349,017A/G—benign
rs144737128713:32,349,474A/G—uncertain significance
rs140895867713:32,349,512T/A—uncertain significance
rs250055880013:32,349,520C/A—uncertain significance
rs12191830313:32,351,535A/Cmissense variantpathogenic
rs250056543213:32,352,693G/A—uncertain significance
rs7316331713:32,352,714G/A—likely benign
rs155563413:32,355,586G/A—benign
rs15007241313:32,355,814G/A—likely benign
rs20179208113:32,355,863G/A—likely benign
rs75553682013:32,356,824G/C—uncertain significance
rs494196013:32,357,083A/G—benign
rs132257413:32,360,279T/G—benign
rs132257513:32,360,349C/T—benign
rs187354074713:32,360,528C/G—uncertain significance
rs18193737413:32,360,543C/T—likely benign
rs732551313:32,360,547A/G—benign
rs954910613:32,360,583A/G—benign
rs250057947913:32,360,716A/G—likely pathogenic
rs4550579313:32,363,217T/C—benign
rs74754128513:32,363,275G/A—uncertain significance
rs7918712213:32,363,338T/C—benign
rs14069372613:32,365,987G/A—uncertain significance
rs37400315213:32,366,005C/T—uncertain significance
rs14667463413:32,366,865A/G—uncertain significance
rs101339545813:32,366,916G/A—uncertain significance
rs15033546613:32,366,925C/T—uncertain significance
rs11784792313:32,366,926G/A—uncertain significance
rs37420793913:32,366,947T/C—uncertain significance
rs14590961113:32,367,024A/G—uncertain significance
rs56653473113:32,367,061T/C—likely benign
rs20213957913:32,367,165C/T—uncertain significance
rs1161652713:32,368,419G/T——
rs1707665713:32,371,361A/G—benign
rs14940538113:32,371,409G/A—likely benign
rs213846729813:32,371,455C/T—uncertain significance
rs74853264913:32,371,541C/T—uncertain significance
rs732256213:32,371,651T/C—benign
rs76989487513:32,376,295C/T—uncertain significance
rs76620509213:32,376,352C/T—uncertain significance
rs57216275913:32,376,368T/G—uncertain significance
rs250060951013:32,376,534G/A—uncertain significance
rs733834113:32,376,718G/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.