Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K296M
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GCK

NM_000162.5:p.K296M

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

34532767 (PubMed )
Supplement: 125_2021_5553_MOESM1_ESM.pdf

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB et al.

Diabetes, 2002

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."