Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G261R
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GCK

NM_000162.5:p.G261R

Associated Papers

Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.

Yoshiji S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Sharp LN et al.

Diabetes, 2026

41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.

Schiabor Barrett KM et al.

Communications Medicine, 2024

39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2

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

Comparison of Variants of Uncertain Significance in Three Regions of the Human Glucokinase Protein Using In Vitro and In Silico Analyses.

Gay C et al.

Cureus, 2024

Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.

Watanabe D et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2024

Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

Çavdarlı C et al.

Acta Diabetologica, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 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

Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.

Wu HX et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.

Aloi C et al.

Life (basel, Switzerland), 2023

Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.

Carrera P et al.

Diabetologia, 2023

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.

Harsunen M et al.

Diabetologia, 2023

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

Dorzagliatin, a Dual-Acting Glucokinase Activator, Increases Insulin Secretion and Glucose Sensitivity in Glucokinase Maturity-Onset Diabetes of the Young and Recent-Onset Type 2 Diabetes.

Chow E et al.

Diabetes, 2023

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 2023

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Hopkins JJ et al.

Human Mutation, 2023

40225155 (PubMed )
Supplement: 8857940.f1.pdf

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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 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

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Gaál Z et al.

Life (basel, Switzerland), 2021

Recognition of maturity-onset diabetes of the young in China.

Liang H et al.

Journal of Diabetes Investigation, 2021

Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY.

Wang X et al.

Redox Biology, 2021

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE et al.

Journal of Personalized Medicine, 2021

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.

Jiang F et al.

Frontiers in Endocrinology, 2021

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

Bouldjennet F et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

Wang Z et al.

Journal of Diabetes Investigation, 2019

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

Komazec J et al.

Endokrynologia Polska, 2019

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes.

Chakera AJ et al.

Molecular Metabolism, 2018

30146176 (PubMed )
Supplement: mmc1.docx
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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."