Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R36P
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GCK

NM_000162.5:p.R36P

Associated Papers

Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.

Yu F et al.

Chinese Medical Journal, 2025

40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

Çavdarlı C et al.

Acta Diabetologica, 2024

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 › GEMME_scores

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › GEMME_scores

Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.

Carrera P et al.

Diabetologia, 2023

Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis.

Karaoglan M et al.

Journal of Diabetes, 2021

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

Crystal structure of glucokinase regulatory protein.

Pautsch A et al.

Biochemistry, 2013

Identification of fructose 6-phosphate- and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase.

Veiga-da-Cunha M et al.

The Journal of Biological Chemistry, 2002

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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."