Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E216D
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GCK

NM_000162.5:p.E216D

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

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."