Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G258D
Back to variants list

GCK

NM_000162.5:p.G258D

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

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

Rajesh V et al.

International Journal of Molecular Sciences, 2025

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

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_Probands

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.

Gao R et al.

Bmc Genetics, 2014

24476040 (PubMed )
Supplement: 1471-2156-15-13-S1.docx

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

Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

Codner E et al.

Pediatric Diabetes, 2009

Glucokinase mutations in young children with hyperglycemia.

Codner E et al.

Diabetes/metabolism Research and Reviews, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."