present in Gene: GCK
present in Chromosome: 7
Position on Chromosome: 44145210
Alleles of this Variant: C/T
rs758737171 in
GCK gene and
Overgrowth
PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
PMID 15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
PMID 21454522 2011 Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
PMID 27130141 2016 Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment.
PMID 24890200 2014 Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.