Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E256K
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GCK

NM_000162.5:p.E256K

Associated Papers

Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.

Thewjitcharoen Y et al.

Frontiers in Endocrinology, 2026

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Monogenic diabetes.

Horikawa Y et al.

Diabetology International, 2024

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

Cho J et al.

International Journal of Molecular Sciences, 2023

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › gnomAD

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

UDP-Glucose: A Cereblon-Dependent Glucokinase Protein Degrader.

Cho J et al.

International Journal of Molecular Sciences, 2022

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

L-Arginine prevents cereblon-mediated ubiquitination of glucokinase and stimulates glucose-6-phosphate production in pancreatic β-cells.

Cho J et al.

Communications Biology, 2020

GCK-MODY and obesity: symptom overlap makes diagnosis difficult.

Calcaterra V et al.

Acta Diabetologica, 2020

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

Malikova J et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Conformational transition pathway of R308K mutant glucokinase in the presence of the glucokinase activator YNKGKA4.

Yellapu NK et al.

Febs Open Bio, 2018

A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance.

Emelyanov AO et al.

International Medical Case Reports Journal, 2017

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.

Brahm AJ et al.

Canadian Journal of Diabetes, 2016

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.

Antosik K et al.

Acta Diabetologica, 2016

Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients.

Yellapu N et al.

Journal of Biomolecular Structure & Dynamics, 2015

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

iPSC-derived β cells model diabetes due to glucokinase deficiency.

Hua H et al.

The Journal of Clinical Investigation, 2013

Conformational transition pathway in the activation process of allosteric glucokinase.

Huang M et al.

Plos One, 2013

Structural Variations of Human Glucokinase Glu256Lys in MODY2 Condition Using Molecular Dynamics Study.

Yellapu NK et al.

Biotechnology Research International, 2013

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

Lys169 of human glucokinase is a determinant for glucose phosphorylation: implication for the atomic mechanism of glucokinase catalysis.

Zhang J et al.

Plos One, 2009

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.

Molnes J et al.

The Febs Journal, 2008

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

Estalella I et al.

Clinical Endocrinology, 2007

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia.

Mahalingam B et al.

Diabetes, 1999

A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.

Njølstad PR et al.

Acta Paediatrica (oslo, Norway : 1992), 1998

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).

Kesavan P et al.

The Biochemical Journal, 1997

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

Velho G et al.

Diabetologia, 1997

Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm.

Matschinsky FM

Diabetes, 1996

Lilly Lecture 1994. The beta-cell in diabetes: from molecular genetics to clinical research.

Polonsky KS

Diabetes, 1995

Glucose potentiation of arginine-induced insulin secretion is impaired in subjects with a glucokinase Glu256Lys mutation.

Wajngot A et al.

Diabetes, 1994

Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.

St Charles R et al.

Diabetes, 1994

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

Takeda J et al.

The Journal of Biological Chemistry, 1993

Mammalian glucokinase and its gene.

Iynedjian PB

The Biochemical Journal, 1993

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

Gidh-Jain M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1993

Identification and analysis of novel R308K mutation in glucokinase of type 2 diabetic patient and its kinetic correlation.

Yellapu NK et al.

Biotechnology and Applied Biochemistry, 0

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.

Althari S et al.

The Review of Diabetic Studies : Rds, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."