HIP1R

huntingtin interacting protein 1 related

Summary

Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants88 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254736051312:123,320,153G/T—uncertain significance
rs7856061512:123,323,338G/Aintron variant—
rs1106034412:123,329,101A/Gintron variant—
rs74764725612:123,332,620G/A—uncertain significance
rs57202865112:123,333,070T/C—uncertain significance
rs254736773612:123,333,349C/T—uncertain significance
rs14525539112:123,334,436C/A—uncertain significance
rs37512804812:123,334,438G/A—uncertain significance
rs6173935812:123,335,396C/T—likely benign
rs138374728412:123,335,420G/T—uncertain significance
rs227104912:123,335,488G/C——
rs11679792612:123,338,582T/C—benign
rs74603016212:123,338,596G/A—uncertain significance
rs20070089812:123,339,496G/A—uncertain significance
rs77649536212:123,339,631A/G—uncertain significance
rs254737297912:123,339,642C/G—uncertain significance
rs75189925412:123,339,652A/T—uncertain significance
rs76787329612:123,339,657G/T—uncertain significance
rs37444099312:123,339,673G/A—uncertain significance
rs37409803712:123,339,878G/A—uncertain significance
rs77012053512:123,340,123C/T—uncertain significance
rs14950487912:123,340,138A/G—uncertain significance
rs54039849312:123,340,155G/A—uncertain significance
rs56320889712:123,340,554A/G—likely benign
rs137431322512:123,340,576G/A—uncertain significance
rs37033364512:123,340,602A/C—uncertain significance
rs142999881612:123,340,612C/G—uncertain significance
rs77430967112:123,340,635C/T—uncertain significance
rs14444835112:123,340,636G/A—uncertain significance
rs53271678712:123,340,695C/T—uncertain significance
rs53041254812:123,340,824C/T—uncertain significance
rs137227393312:123,340,827G/A—uncertain significance
rs14066623412:123,341,004C/T—uncertain significance
rs86867380312:123,341,010C/T—uncertain significance
rs20056348812:123,341,037G/A—uncertain significance
rs134931965512:123,341,094A/C—uncertain significance
rs254737462912:123,341,200A/C—uncertain significance
rs36969929712:123,341,241C/T—uncertain significance
rs77273793212:123,341,244G/A—uncertain significance
rs77523712012:123,341,268G/C—likely benign
rs36839251212:123,341,638G/A—uncertain significance
rs36837083512:123,341,662C/T—uncertain significance
rs129367663312:123,341,682G/A—uncertain significance
rs131894992112:123,341,683A/G—uncertain significance
rs15010918412:123,341,692C/T—uncertain significance
rs101233293812:123,341,695C/T—uncertain significance
rs37573770712:123,341,703C/T—uncertain significance
rs133756231712:123,341,714G/C—uncertain significance
rs76559590512:123,341,716G/A—uncertain significance
rs137114980112:123,341,744G/C—uncertain significance
rs132488220612:123,341,761G/A—likely benign
rs37237418612:123,341,766T/C—likely benign
rs203364843112:123,342,662A/T—uncertain significance
rs36931274912:123,342,670C/T—uncertain significance
rs7961039612:123,342,688G/A—uncertain significance
rs74606245712:123,342,697G/A—uncertain significance
rs11786667612:123,342,706C/T—benign
rs118271631712:123,342,723G/C—uncertain significance
rs254737659712:123,343,388C/T—uncertain significance
rs76982523012:123,343,394C/T—uncertain significance
rs76306272812:123,343,414C/T—uncertain significance
rs37138031412:123,343,686G/A—conflicting classifications of pathogenicity
rs77100149312:123,343,716C/A—uncertain significance
rs78133103312:123,343,724G/A—uncertain significance
rs77627288212:123,344,013T/C—uncertain significance
rs203369969012:123,344,060G/A—uncertain significance
rs203369983712:123,344,069G/T—uncertain significance
rs14146519312:123,344,072C/T—uncertain significance
rs77096375212:123,344,311G/C—likely benign
rs75292614512:123,344,337C/T—uncertain significance
rs14486716512:123,344,343G/A—uncertain significance
rs75641058612:123,345,066C/A—uncertain significance
rs19955450712:123,345,257G/A—uncertain significance
rs74695670312:123,345,275A/G—uncertain significance
rs77690574612:123,345,278G/A—uncertain significance
rs75759521112:123,345,695G/A—uncertain significance
rs77277720812:123,345,735C/T—uncertain significance
rs75658374012:123,345,858C/T—uncertain significance
rs78094046912:123,345,880C/T—uncertain significance
rs14243503712:123,345,900C/T—uncertain significance
rs86780716712:123,345,906G/A—uncertain significance
rs14967393212:123,345,975C/T—uncertain significance
rs75322603712:123,346,017C/A—uncertain significance
rs203377047512:123,346,018C/T—uncertain significance
rs75962935612:123,346,038G/A—likely benign
rs13806867712:123,346,047A/C—benign
rs77251756712:123,346,271A/G—likely benign
rs142062592512:123,346,281C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.