INPP5B

inositol polyphosphate-5-phosphatase B

Summary

This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]

Known Variants103 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38431:38,327,982G/T—benign
rs5610884561:38,328,030T/G—uncertain significance
rs5298744801:38,328,031T/C—uncertain significance
rs3737763161:38,328,061G/A—uncertain significance
rs285422721:38,328,154G/T—benign
rs413111911:38,329,999C/G—benign
rs7723174181:38,330,034C/T—likely benign
rs13995215211:38,330,056G/A—uncertain significance
rs7550811751:38,330,077T/G—uncertain significance
rs14779955851:38,331,465C/T—uncertain significance
rs7587000031:38,331,495T/C—uncertain significance
rs11646293961:38,331,558C/A—uncertain significance
rs46533321:38,331,799C/G—benign
rs7601924361:38,332,140C/T—uncertain significance
rs7502220051:38,332,198T/A—uncertain significance
rs13714332911:38,334,193A/G—uncertain significance
rs7577659371:38,334,271A/T—likely benign
rs23064251:38,334,317T/A—benign
rs23064261:38,334,318C/A—benign
rs7717665551:38,338,649T/C—uncertain significance
rs3684173241:38,338,663T/G—uncertain significance
rs3763204851:38,338,745C/T—uncertain significance
rs2003729161:38,338,760T/A—uncertain significance
rs114885691:38,338,795A/G—benign
rs9734119721:38,338,828A/G—uncertain significance
rs1487114351:38,339,659C/T—benign
rs3734288231:38,339,773G/A—uncertain significance
rs7776902971:38,341,291A/C—uncertain significance
rs7586897211:38,341,298C/G—uncertain significance
rs3775540151:38,341,373C/T—uncertain significance
rs127524141:38,341,518G/A—benign
rs604397731:38,341,616C/A—benign
rs1413571691:38,343,863G/A—likely benign
rs3741242481:38,343,936G/A—uncertain significance
rs7805427691:38,345,781G/A—uncertain significance
rs23064271:38,345,896A/C—benign
rs413078961:38,348,506G/A—benign
rs3735234531:38,348,508C/T—uncertain significance
rs7647935151:38,351,316T/C—uncertain significance
rs7541836011:38,351,361T/C—uncertain significance
rs7806522761:38,351,416T/C—uncertain significance
rs2022049671:38,351,443C/T—likely benign
rs13656351741:38,351,482C/T—uncertain significance
rs7637760511:38,352,592C/T—uncertain significance
rs2005060681:38,352,593G/A—likely benign
rs25250942661:38,352,615G/A—uncertain significance
rs22792611:38,352,849G/C—benign
rs7532731481:38,353,071C/A—uncertain significance
rs1398334741:38,353,074C/T—likely benign
rs560234371:38,353,403C/Tdownstream gene variant—
rs14292993321:38,353,939T/G—uncertain significance
rs285801411:38,353,941T/G—benign
rs46529701:38,354,246G/A—benign
rs22911611:38,355,103G/T—benign
rs7512252601:38,355,270T/C—likely benign
rs7571035521:38,355,312C/A—uncertain significance
rs25251402241:38,355,344T/C—uncertain significance
rs7602324171:38,355,377C/T—uncertain significance
rs617766671:38,355,520A/G—benign
rs343495471:38,356,870G/C—benign
rs10472427111:38,357,046C/G—uncertain significance
rs7735474371:38,357,118T/C—uncertain significance
rs10062072131:38,357,120G/A—uncertain significance
rs359789211:38,361,215C/Tintron variant—
rs617766761:38,364,229C/Tintron variant—
rs97292841:38,373,989C/G——
rs617766781:38,377,021G/Aintron variant—
rs352676711:38,397,369C/T—benign
rs1428496961:38,397,370G/A—benign
rs3715366091:38,397,372C/A—benign
rs617512281:38,397,524C/T—benign
rs7656804891:38,397,660C/T—uncertain significance
rs7773387241:38,397,710G/A—uncertain significance
rs768493671:38,397,821C/T—benign
rs286057591:38,399,816G/Aintron variant—
rs3763112531:38,406,382G/A—likely benign
rs2001110671:38,406,456C/T—uncertain significance
rs286007291:38,406,626A/G—benign
rs285709691:38,407,146A/C——
rs283801081:38,409,103G/C—benign
rs284167601:38,409,112T/A—benign
rs2015338551:38,409,317A/T—benign
rs1143282401:38,409,395C/T—benign
rs7492329951:38,409,479G/A—uncertain significance
rs2000338811:38,409,491G/A—uncertain significance
rs13202000171:38,409,533A/G—uncertain significance
rs615807801:38,409,616G/A—benign
rs781227941:38,409,635G/A—benign
rs617767011:38,411,275A/G—benign
rs114855951:38,411,350C/T—benign
rs7733874901:38,411,428G/A—likely pathogenic
rs569930411:38,411,444C/T—benign
rs8715241:38,411,445G/A—benign
rs1855695651:38,411,455C/T—uncertain significance
rs1824652541:38,411,489G/C—uncertain significance
rs13952860331:38,411,521G/A—uncertain significance
rs617512291:38,411,527G/A—benign
rs412673431:38,411,651A/G—benign
rs25260773181:38,411,926T/A—uncertain significance
rs3756498731:38,411,929C/T—likely benign

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.