Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M235V
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GCK

NM_000162.5:p.M235V

Associated Papers

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM1_ESM.pdf

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

37292969 (PubMed )
Supplement: media-1.pdf

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

How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response.

Dwulet JM et al.

Biophysical Journal, 2019

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

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

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Stanik J et al.

Diabetologia, 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

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

Bonfig W et al.

Isrn Pediatrics, 2011

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM et al.

Diabetologia, 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."