Variant: rs104894008 

    present in Gene: LOC105375258;GCK
    present in Chromosome: 7
    Position on Chromosome: 44147732
    Alleles of this Variant: C/G;T

rs104894008 in LOC105375258;GCK gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

rs104894008 in LOC105375258;GCK gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PMID 10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

PMID 1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

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 8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PMID 9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PMID 8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PMID 1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PMID 8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PMID 8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.