MINPP1

multiple inositol-polyphosphate phosphatase 1

Summary

This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]

Known Variants53 total

rsidPosition (GRCh37)AllelesClassClinVar
rs223316410:89,264,476A/Tregulatory region variant—
rs95935812310:89,264,707C/T—uncertain significance
rs20156586110:89,264,723G/A—likely benign
rs249250084110:89,264,728T/C—uncertain significance
rs119677953910:89,264,771A/G—likely benign
rs14926270310:89,264,786G/T—likely benign
rs11948609610:89,264,794C/Tmissense variantpathogenic
rs213179256710:89,264,829T/G—likely pathogenic
rs75362090710:89,264,843C/T—likely benign
rs14620957310:89,264,847G/A—uncertain significance
rs20119142110:89,264,895G/C—likely benign
rs76200771610:89,264,904T/C—uncertain significance
rs75023281910:89,264,909C/A—likely benign
rs76539800810:89,265,012T/C—likely benign
rs142750154510:89,265,024G/A—likely benign
rs76699553010:89,265,063C/A—uncertain significance
rs75882284810:89,265,095G/C—uncertain significance
rs20180871210:89,265,123C/T—uncertain significance
rs78155226810:89,265,234A/T—uncertain significance
rs75933313210:89,265,306G/C—uncertain significance
rs384359710:89,267,957C/T—benign
rs76234857110:89,268,114C/A—uncertain significance
rs249251704410:89,268,123A/G—uncertain significance
rs145694551310:89,268,137T/C—uncertain significance
rs102642049610:89,268,200G/A—uncertain significance
rs74770234510:89,268,207C/G—uncertain significance
rs249251769910:89,268,224G/C—uncertain significance
rs132442884710:89,268,240T/C—uncertain significance
rs10489417110:89,268,264A/Gmissense variantpathogenic
rs19960905610:89,272,872T/C—benign
rs74863603310:89,272,896C/A—likely pathogenic
rs75664052510:89,272,926T/C—uncertain significance
rs4129915910:89,273,012T/A—benign
rs1235625910:89,275,057T/Aintron variant—
rs249255379410:89,280,799G/T—likely pathogenic
rs74964395210:89,280,851T/G—conflicting classifications of pathogenicity
rs213181506610:89,280,867C/G—uncertain significance
rs14753229910:89,281,824A/Tintron variant—
rs1120243910:89,299,709G/Aintron variant—
rs136766228710:89,311,858C/A—uncertain significance
rs56806711710:89,311,941A/G—benign
rs77002173910:89,311,966A/G—uncertain significance
rs138109360210:89,311,973G/A—uncertain significance
rs249263396810:89,311,974G/A—likely benign
rs131161426410:89,311,981C/T—likely pathogenic
rs77294929710:89,311,990C/T—uncertain significance
rs223316910:89,312,046T/C—benign
rs134073434410:89,312,062C/G—likely benign
rs120983849110:89,312,105T/G—uncertain significance
rs77207774310:89,312,164A/T—uncertain significance
rs249263520410:89,312,177G/A—uncertain significance
rs144375728310:89,312,202A/T—uncertain significance
rs213184860410:89,312,227G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.