Variant: rs104894237 

    present in Gene: KCNJ11
    present in Chromosome: 11
    Position on Chromosome: 17387331
    Alleles of this Variant: G/A

rs104894237 in KCNJ11 gene and Hyperinsulinemic hypoglycemia, familial, 2 PMID 16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PMID 16332676 2006 A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

PMID 7847376 1995 Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 10204114 1999 Molecular biology of adenosine triphosphate-sensitive potassium channels.

PMID 15807877 2005 Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

PMID 19357197 2009 Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 8923010 1996 Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 15998776 2005 Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

PMID 18596924 2008 Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

PMID 15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PMID 12364426 2002 Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.