Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D73E
Back to variants list

GCK

NM_000162.5:p.D73E

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

Activating mutations in the human glucokinase gene revealed by genetic selection.

Pal P et al.

Biochemistry, 2009

Linker residues regulate the activity and stability of hexokinase 2, a promising anticancer target.

Ferreira JC et al.

The Journal of Biological Chemistry, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."