RIPOR2

RHO family interacting cell polarization regulator 2

Summary

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

Known Variants330 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1137073906:24,806,275T/C—likely benign
rs93935866:24,806,338T/C—benign
rs93587996:24,806,594C/T—benign
rs3739132406:24,806,612T/C—conflicting classifications of pathogenicity
rs7503633026:24,806,615C/T—uncertain significance
rs7568435336:24,806,651A/G—uncertain significance
rs2015215936:24,806,674T/C—uncertain significance
rs3699941546:24,806,682T/G—likely benign
rs14306415156:24,806,689C/T—uncertain significance
rs25324812516:24,806,695T/C—uncertain significance
rs5435757106:24,806,707T/C—likely benign
rs1156803816:24,806,713A/G—benign
rs14471252866:24,806,721C/T—likely benign
rs40744206:24,806,752C/A—benign
rs93796896:24,806,777T/A—benign
rs93796906:24,806,923A/C—benign
rs93796926:24,809,771A/G—benign
rs93935876:24,809,853C/T—benign
rs556409336:24,809,874A/C—benign
rs93588016:24,809,881T/A—benign
rs93796936:24,809,936A/T—benign
rs3720641126:24,809,997T/C—likely benign
rs1465007196:24,810,007G/A—uncertain significance
rs3713677526:24,810,082G/A—benign
rs109467276:24,810,301T/A—benign
rs109467286:24,810,302C/A—benign
rs759930826:24,818,759C/A—benign
rs2019732356:24,818,761G/A—likely benign
rs93588026:24,818,785A/G—benign
rs617331436:24,818,827T/C—benign
rs93796946:24,819,019G/A—benign
rs787069086:24,819,024G/A—likely benign
rs9717276896:24,825,435C/T—likely benign
rs1816545316:24,825,482G/A—conflicting classifications of pathogenicity
rs14536731016:24,825,483C/T—uncertain significance
rs17600591416:24,825,494T/C—uncertain significance
rs7629459106:24,825,500G/A—uncertain significance
rs93588046:24,825,511A/G—benign
rs1859471176:24,825,520G/A—likely benign
rs7678340786:24,825,529T/C—likely benign
rs7507791226:24,825,532G/C—likely benign
rs7591922466:24,825,538T/G—likely benign
rs3763140316:24,825,577G/A—likely benign
rs9992780636:24,825,601C/T—conflicting classifications of pathogenicity
rs5598361626:24,825,603T/C—uncertain significance
rs14419799136:24,825,610T/C—likely benign
rs12351927676:24,825,625T/G—uncertain significance
rs1888003156:24,825,637C/T—likely benign
rs563262456:24,828,121T/C—benign
rs353747266:24,828,318T/C—benign
rs3769499066:24,828,333C/T—likely benign
rs7735627356:24,828,357T/A—likely benign
rs21136728106:24,828,379T/C—uncertain significance
rs17603469956:24,828,394T/G—uncertain significance
rs5382128546:24,828,407C/T—uncertain significance
rs1404100626:24,828,410C/T—conflicting classifications of pathogenicity
rs5685298256:24,828,438G/A—likely benign
rs12288974156:24,828,447G/A—likely benign
rs617417066:24,828,449C/T—benign
rs1838338316:24,828,450G/A—likely benign
rs15815071426:24,828,451A/G—uncertain significance
rs9868104736:24,828,456C/T—likely benign
rs7569582226:24,828,457G/A—uncertain significance
rs94610736:24,828,490T/C—benign
rs3686669466:24,828,491G/A—uncertain significance
rs13844871336:24,828,509C/T—uncertain significance
rs11639597046:24,828,517C/T—uncertain significance
rs14356442306:24,828,519A/T—uncertain significance
rs1441904056:24,828,529C/T—benign
rs3756199686:24,828,530G/A—likely benign
rs12351199826:24,828,533A/G—likely benign
rs454379916:24,828,560A/G—benign
rs798689806:24,830,680C/G—benign
rs1428998206:24,830,681C/T—likely benign
rs9167760416:24,830,746C/T—uncertain significance
rs13292965696:24,830,773T/A—uncertain significance
rs8971547896:24,830,794G/A—likely benign
rs5417749376:24,830,813C/T—likely benign
rs12527869816:24,830,814G/A—uncertain significance
rs14896934816:24,830,818G/A—likely benign
rs14749458686:24,830,832C/A—uncertain significance
rs8885184426:24,830,849C/G—uncertain significance
rs456192416:24,830,976T/C—benign
rs94673286:24,830,991T/C—benign
rs94673296:24,831,022G/C—benign
rs119682836:24,832,250G/T—benign
rs119682866:24,832,262G/A—benign
rs3763723176:24,832,468A/G—likely benign
rs7561141716:24,832,508C/T—uncertain significance
rs10302550116:24,832,510A/G—uncertain significance
rs10456575216:24,832,528G/A—uncertain significance
rs12955513536:24,832,544T/C—likely benign
rs12579541786:24,832,593T/C—likely benign
rs8875016156:24,832,602G/T—uncertain significance
rs119683406:24,832,713C/G—benign
rs119638876:24,832,797A/G—benign
rs119616406:24,832,884T/C—benign
rs733984046:24,835,700A/G—benign
rs1818448906:24,835,885T/G—benign
rs7758324536:24,835,935A/G—uncertain significance

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.