Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y61S
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GCK

NM_000162.5:p.Y61S

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 › ddG_1V4S

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

Conformational transition pathway in the activation process of allosteric glucokinase.

Huang M et al.

Plos One, 2013

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Estalella I et al.

Journal of Human Genetics, 2008

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

Conformational transition pathway in the allosteric process of human glucokinase.

Zhang J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

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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."