Variant: rs104894012 

    present in Gene: GCK
    present in Chromosome: 7
    Position on Chromosome: 44145171
    Alleles of this Variant: C/T

rs104894012 in GCK gene and Hyperinsulinemic hypoglycemia, familial, 3 PMID 11916951 2002 The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

PMID 12941786 2003 Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

PMID 20375417 2010 Large islets, beta-cell proliferation, and a glucokinase mutation.

PMID 15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

PMID 9435328 1998 Familial hyperinsulinism caused by an activating glucokinase mutation.

PMID 17082186 2006 Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 28247534 2017 Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.