Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L301M
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GCK

NM_000162.5:p.L301M

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

Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active site of the structure contributing to poor substrate binding - explains hyperglycemia in type 2 diabetic patients.

Yellapu N et al.

Journal of Biomolecular Structure & Dynamics, 2015

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