Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A53S
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GCK

NM_000162.5:p.A53S

Associated Papers

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

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

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

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf

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

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

Bonfig W et al.

Isrn Pediatrics, 2011

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.

Sayed S et al.

Diabetes, 2009

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

Gloyn AL et al.

Biochemical Society Transactions, 2008

RNA processing and mRNA surveillance in monogenic diabetes.

Locke JM et al.

Gene Regulation and Systems Biology, 2008

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL et al.

The Journal of Biological Chemistry, 2005

Identification and characterization of the ATP-binding site in human pancreatic glucokinase.

Marotta DE et al.

Archives of Biochemistry and Biophysics, 2005

Glucokinase and glucose homeostasis: proven concepts and new ideas.

Zelent D et al.

Biochemical Society Transactions, 2005

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

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR et al.

Diabetes, 2003

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA et al.

Diabetologia, 1999

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

Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.

Miller SP 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

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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."