Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L315H
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GCK

NM_000162.5:p.L315H

Associated Papers

Sex-dependent additive effects of dorzagliatin and incretin on insulin secretion in a novel mouse model of GCK-MODY.

Salazar S et al.

Biorxiv : the Preprint Server for Biology, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 2022

Characterization of two MODY2 mutations with different susceptibility to activation.

Langer S et al.

Biochemical and Biophysical Research Communications, 2015

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M et al.

Polskie Archiwum Medycyny Wewnetrznej, 2015

Clinical utility gene card for: Maturity-onset diabetes of the young.

Colclough K et al.

European Journal of Human Genetics : Ejhg, 2014

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

Ancestral mutations may cause a significant proportion of GCK-MODY.

Dusatkova P et al.

Pediatric Diabetes, 2012

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Valentínová L et al.

Plos One, 2012

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

Six novel mutations in the GCK gene in MODY patients.

Pinterova D et al.

Clinical Genetics, 2007

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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."