Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.W257R
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GCK

NM_000162.5:p.W257R

Associated Papers

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Ding Y et al.

Pediatric Diabetes, 2025

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

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

[A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young].

Hong P et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2019

Robust classification of protein variation using structural modelling and large-scale data integration.

Baugh EH et al.

Nucleic Acids Research, 2016

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

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

Bonfig W et al.

Isrn Pediatrics, 2011

Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.

Lukášová P et al.

Physiological Research, 2008

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

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

Hattersley AT

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

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

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

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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."