Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M197L
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GCK

NM_000162.5:p.M197L

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

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

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B et al.

The Biochemical Journal, 2011

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

Sayed S et al.

Diabetes, 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."