Gene: GCK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894006
rs104894006
GCK ; LOC105375258
0.010 GeneticVariation BEFREE Five novel (F195S, I211T, V222D, E236G and K458R) and five known (T49N, I159V, R186X, A188T and M381T) mutations were identified and co-segregated with hyperglycaemia in their pedigrees. 30257192

2018
dbSNP: rs751279776
rs751279776
GCK ; LOC105375258
0.010 GeneticVariation BEFREE Five novel (F195S, I211T, V222D, E236G and K458R) and five known (T49N, I159V, R186X, A188T and M381T) mutations were identified and co-segregated with hyperglycaemia in their pedigrees. 30257192

2018
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. 27271189

2016
dbSNP: rs1562715574
rs1562715574
GCK ; LOC105375258
C 0.700 GeneticVariation CLINVAR Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. 24735133

2015
dbSNP: rs1064794268
rs1064794268
GCK
G 0.700 GeneticVariation CLINVAR ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. 25182307

2014
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 25015100

2014
dbSNP: rs193922262
rs193922262
GCK
0.010 GeneticVariation BEFREE Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. 22335469

2013
dbSNP: rs193922287
rs193922287
GCK
0.010 GeneticVariation BEFREE Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. 22335469

2013
dbSNP: rs746913146
rs746913146
GCK ; LOC105375258
0.010 GeneticVariation BEFREE Family history for mild hyperglycaemia and GADA fluctuation alerted us to a possible MODY diagnosis which was confirmed by detection of GCK mutation c.626C>T; p.T209M. 23352578

2013
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. 22035297

2012
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. 22060211

2012
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
A 0.700 CausalMutation CLINVAR Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. 23295292

2012
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
G 0.700 GeneticVariation CLINVAR GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. 22820548

2012
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 22611063

2012
dbSNP: rs764232985
rs764232985
GCK
T 0.700 GeneticVariation CLINVAR Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 22493702

2012
dbSNP: rs1057524903
rs1057524903
GCK ; LOC105375258
C 0.700 CausalMutation CLINVAR Insight into the biochemical characteristics of a novel glucokinase gene mutation. 21104275

2011
dbSNP: rs397514580
rs397514580
GCK ; LOC105375258
0.010 GeneticVariation BEFREE In the present study, we identified and functionally characterized a novel missense mutation in the GCK gene, which results in a protein mutation Glu(339)→Lys (E339K), from a Chinese family with hyperglycemia. 21104275

2011
dbSNP: rs755498926
rs755498926
GCK
0.010 GeneticVariation BEFREE Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. 21214702

2011
dbSNP: rs1057524900
rs1057524900
GCK
T 0.700 GeneticVariation CLINVAR Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 20337973

2010
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1064793998
rs1064793998
GCK
0.720 GeneticVariation BEFREE The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1064793998
rs1064793998
GCK
T 0.720 CausalMutation CLINVAR The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. 19187021

2009
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 19790256

2009
dbSNP: rs1057524901
rs1057524901
GCK
C 0.700 GeneticVariation CLINVAR Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 19150152

2009
dbSNP: rs1057524902
rs1057524902
GCK
T 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519

2009