G6PC1

glucose-6-phosphatase catalytic subunit 1

Summary

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]

Known Variants430 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14575256517:41,052,817G/A—likely benign
rs36781643017:41,052,849G/A—conflicting classifications of pathogenicity
rs215192905417:41,052,902A/G—likely benign
rs125017281617:41,052,907T/G—pathogenic
rs37476639617:41,052,908G/T—likely pathogenic
rs14465251617:41,052,911T/C—conflicting classifications of pathogenicity
rs159798675417:41,052,920T/A—uncertain significance
rs76392204017:41,052,935G/A—likely benign
rs139401058517:41,052,938A/G—likely benign
rs76183950617:41,052,939A/G—uncertain significance
rs155555891417:41,052,940C/G—uncertain significance
rs133637109717:41,052,941A/C—likely benign
rs141423463617:41,052,947C/A—pathogenic
rs254420639917:41,052,950C/T—likely benign
rs205602141017:41,052,952A/G—pathogenic
rs76688677117:41,052,959T/C—likely benign
rs159798679117:41,052,962C/G—pathogenic
rs215192908917:41,052,963C/T—pathogenic
rs105751636717:41,052,972C/Tstop gainedpathogenic
rs37161100017:41,052,974G/C—uncertain significance
rs75071145117:41,052,975G/A—uncertain significance
rs254420644417:41,052,978T/A—uncertain significance
rs254420645017:41,052,984A/T—uncertain significance
rs53896060417:41,052,985T/A—uncertain significance
rs254420645117:41,052,986C/T—likely benign
rs118514785517:41,052,987T/C—likely benign
rs77831483417:41,052,991T/A—uncertain significance
rs74742695817:41,052,995C/T—likely benign
rs75779823417:41,052,996G/A—uncertain significance
rs14846163317:41,053,001C/T—likely benign
rs78106457517:41,053,002G/A—uncertain significance
rs10489456517:41,053,006A/Tmissense variantpathogenic
rs215192911417:41,053,007C/T—likely benign
rs99146343017:41,053,014A/G—uncertain significance
rs254420651717:41,053,019C/T—likely benign
rs77566767717:41,053,020T/C—uncertain significance
rs20219019717:41,053,025C/G—pathogenic
rs14574964417:41,053,026G/A—uncertain significance
rs91525184817:41,053,028C/A—likely benign
rs159798686917:41,053,034C/G—uncertain significance
rs205602246617:41,053,035C/T—uncertain significance
rs215192913417:41,053,037C/T—likely benign
rs130470789217:41,053,040C/T—likely benign
rs105751667417:41,053,043——pathogenic
rs147589738117:41,053,048A/T—uncertain significance
rs96862459917:41,053,049T/C—likely benign
rs105751700817:41,053,054A/Cmissense variantpathogenic
rs205602267117:41,053,060C/A—uncertain significance
rs254420661317:41,053,065G/A—uncertain significance
rs77421557217:41,053,068A/G—uncertain significance
rs254420662417:41,053,074C/T—uncertain significance
rs76492078717:41,053,082G/Astop gainedpathogenic
rs36947208917:41,053,086G/C—pathogenic
rs254420666217:41,053,088T/A—likely benign
rs156770281917:41,053,095G/A—pathogenic
rs156770282317:41,053,102G/A—pathogenic
rs75350207617:41,053,108A/G—uncertain significance
rs215192916817:41,053,109C/T—likely benign
rs37354577517:41,053,112C/A—likely benign
rs75195928317:41,053,113G/A—conflicting classifications of pathogenicity
rs78171494117:41,053,118T/C—likely benign
rs205602329617:41,053,121G/C—pathogenic
rs10489456617:41,053,122T/Cmissense variantpathogenic
rs86322402317:41,053,124G/C—pathogenic
rs58777675717:41,053,127A/Gsplice region variantpathogenic
rs137391817017:41,053,131C/T—likely benign
rs254420674017:41,053,132C/A—likely benign
rs205602341517:41,053,133A/G—likely benign
rs75615166417:41,053,134T/C—conflicting classifications of pathogenicity
rs137066941417:41,053,136T/C—likely benign
rs78013473217:41,053,137A/G—likely benign
rs254420675717:41,053,139A/G—likely benign
rs989953517:41,053,153A/G—likely benign
rs139040507517:41,055,928C/G—likely benign
rs76493603117:41,055,930T/C—likely benign
rs254420877817:41,055,931G/T—likely benign
rs75234858017:41,055,933T/C—likely benign
rs37390854917:41,055,936G/A—conflicting classifications of pathogenicity
rs254420878817:41,055,938T/C—likely benign
rs215192998417:41,055,940T/A—likely benign
rs254420878917:41,055,941T/C—likely benign
rs133265776817:41,055,943C/T—likely benign
rs120029720817:41,055,944A/G—likely benign
rs123317298917:41,055,945T/C—uncertain significance
rs155555927917:41,055,947G/A—pathogenic
rs254420880617:41,055,948G/A—pathogenic
rs254420881117:41,055,951T/C—likely benign
rs117678054017:41,055,955T/A—pathogenic
rs75088627417:41,055,956T/C—likely pathogenic
rs147621659017:41,055,957T/C—likely benign
rs75663228617:41,055,958G/A—likely pathogenic
rs156770373517:41,055,961C/T—uncertain significance
rs102679918017:41,055,963G/A—likely benign
rs180117517:41,055,964C/Tmissense variantpathogenic
rs180117617:41,055,965G/Amissense variantpathogenic
rs254420884017:41,055,967C/T—uncertain significance
rs14896704717:41,055,969A/G—likely benign
rs74836308317:41,055,972C/A—pathogenic
rs205604313917:41,055,973T/C—uncertain significance
rs14291763817:41,055,975G/A—pathogenic

Showing 100 of 430 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.