RHPN2

rhophilin Rho GTPase binding protein 2

Summary

This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]

Known Variants62 total

rsidPosition (GRCh37)AllelesClassClinVar
rs130804802119:33,470,921G/A—uncertain significance
rs14754120719:33,470,924T/C—uncertain significance
rs251380104219:33,470,954T/C—uncertain significance
rs75981287019:33,471,066T/G—uncertain significance
rs14796742119:33,471,138C/T—uncertain significance
rs74689407519:33,481,470C/A—uncertain significance
rs18323631819:33,481,563G/A—uncertain significance
rs76946934119:33,482,800C/T—uncertain significance
rs7931417719:33,482,821G/A—benign
rs75037990719:33,482,844C/T—uncertain significance
rs13845148519:33,484,901C/T—likely benign
rs251380926919:33,484,920A/G—uncertain significance
rs13815367119:33,486,989C/T—likely benign
rs7535136919:33,486,992A/C—benign
rs251381039419:33,487,003G/A—uncertain significance
rs120027752019:33,487,045A/G—uncertain significance
rs14123299519:33,487,052G/A—uncertain significance
rs37060541519:33,487,063C/A—uncertain significance
rs13976677819:33,487,072G/A—uncertain significance
rs77479887719:33,487,078C/T—uncertain significance
rs1108468919:33,487,182A/Gregulatory region variant—
rs20184478919:33,490,510G/C—uncertain significance
rs156831293019:33,493,203T/C—uncertain significance
rs76795936619:33,493,219C/T—uncertain significance
rs13983934519:33,493,221C/T—uncertain significance
rs14567731519:33,493,224G/A—uncertain significance
rs2840779419:33,493,234C/G—benign
rs251381406419:33,493,246G/A—uncertain significance
rs251381410719:33,493,285G/A—uncertain significance
rs20178734819:33,493,711A/G—likely benign
rs75708136619:33,493,765C/T—likely benign
rs15117922719:33,493,778G/A—uncertain significance
rs77222756719:33,493,790C/T—uncertain significance
rs134228375019:33,493,829C/T—uncertain significance
rs14482074919:33,493,835C/T—benign
rs95966783519:33,493,856T/A—uncertain significance
rs57769778819:33,499,028T/A—conflicting classifications of pathogenicity
rs251382100419:33,502,613T/C—uncertain significance
rs37324991619:33,502,699G/A—uncertain significance
rs77980480319:33,502,713C/T—likely benign
rs128277337319:33,503,573C/A—uncertain significance
rs15070395719:33,512,488C/T—uncertain significance
rs74722429619:33,517,428C/T—uncertain significance
rs77314420619:33,517,486C/T—uncertain significance
rs76644217119:33,517,503C/T—uncertain significance
rs147067420119:33,517,525A/G—likely benign
rs811221719:33,518,718A/Gintron variant—
rs7303942619:33,520,961C/Tintron variant—
rs7303942819:33,521,150A/Gintron variant—
rs7303943419:33,524,919T/Gintron variant—
rs1042433319:33,527,596C/T——
rs1334395419:33,527,888T/Cintron variant—
rs1041121019:33,532,300C/Tregulatory region variant—
rs37175969319:33,535,185C/T—uncertain significance
rs74771566919:33,535,201T/C—uncertain significance
rs18262170219:33,537,201T/Cintron variant—
rs725560119:33,549,775G/Cintron variant—
rs1188136719:33,551,428G/Aintron variant—
rs92683294419:33,555,704C/A—uncertain significance
rs156833041319:33,555,713C/T—uncertain significance
rs651034019:33,556,669A/G——
rs810645319:33,557,412C/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.