Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M202T
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GCK

NM_000162.5:p.M202T

Associated Papers

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.

Schiabor Barrett KM et al.

Communications Medicine, 2024

39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

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

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Majidi S et al.

Diabetes Technology & Therapeutics, 2018

29355436 (PubMed )
Supplement: sj-pdf-1-dtt-10.1089_dia.2017.0317.pdf

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C et al.

Pediatric Diabetes, 2016

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

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y et al.

Pediatric Diabetes, 2012

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

Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.

Stern E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."