Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S64P
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GCK

NM_000162.5:p.S64P

Associated Papers

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 › ddG_1V4S_GLC

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations.

Sabi SH et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Li C et al.

Diabetes, 2023

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 › ddG_all

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Boodhansingh KE et al.

European Journal of Endocrinology, 2022

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.

Langer S et al.

Diabetologia, 2021

34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf

A novel reverse two-hybrid method for the identification of missense mutations that disrupt protein-protein binding.

Vincent O et al.

Scientific Reports, 2020

Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism.

Sternisha SM et al.

Biochemistry, 2018

Role of connecting loop I in catalysis and allosteric regulation of human glucokinase.

Martinez JA et al.

Protein Science : a Publication of the Protein Society, 2014

Order-disorder transitions govern kinetic cooperativity and allostery of monomeric human glucokinase.

Larion M et al.

Plos Biology, 2012

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B et al.

The Biochemical Journal, 2011

Research and development of glucokinase activators for diabetes therapy: theoretical and practical aspects.

Matschinsky FM et al.

Handbook of Experimental Pharmacology, 2011

Activating mutations in the human glucokinase gene revealed by genetic selection.

Pal P et al.

Biochemistry, 2009

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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."