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

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

Gene information from NCBI Gene. Variant classifications from ClinVar.