Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N180D
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GCK

NM_000162.5:p.N180D

Associated Papers

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

Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).

Gilis-Januszewska A et al.

Genes, 2021

Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature.

Ping F et al.

Journal of Diabetes Investigation, 2019

Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation.

Jannin A et al.

Presse Medicale (paris, France : 1983), 2018

Homotropic allosteric regulation in monomeric mammalian glucokinase.

Larion M et al.

Archives of Biochemistry and Biophysics, 2012

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

Pal P et al.

Biochemistry, 2009

Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose.

Moukil MA et al.

Diabetes, 2000

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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."