Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E256A
Back to variants list

GCK

NM_000162.5:p.E256A

Associated Papers

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › glc_bind_destab

Large-scale in-silico statistical mutagenesis analysis sheds light on the deleteriousness landscape of the human proteome.

Raimondi D et al.

Scientific Reports, 2018

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS et al.

Clinical Genetics, 2017

Conformational transition pathway in the activation process of allosteric glucokinase.

Huang M et al.

Plos One, 2013

Lys169 of human glucokinase is a determinant for glucose phosphorylation: implication for the atomic mechanism of glucokinase catalysis.

Zhang J et al.

Plos One, 2009

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.

Molnes J et al.

The Febs Journal, 2008

Site-directed mutagenesis studies on the determinants of sugar specificity and cooperative behavior of human beta-cell glucokinase.

Xu LZ et al.

The Journal of Biological Chemistry, 1994

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."