Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S453A
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GCK

NM_000162.5:p.S453A

Associated Papers

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › hyper-variants-positive-dddG

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

Nanosecond-Timescale Dynamics and Conformational Heterogeneity in Human GCK Regulation and Disease.

Sternisha SM et al.

Biophysical Journal, 2020

23-Residue C-terminal alpha-helix governs kinetic cooperativity in monomeric human glucokinase.

Larion M et al.

Biochemistry, 2009

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."