Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T209R
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GCK

NM_000162.5:p.T209R

Associated Papers

Glucokinase Variant Proteins Are Resistant to Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset Diabetes of the Young Type 2 Patients.

Cho J et al.

International Journal of Molecular Sciences, 2023

37958824 (PubMed )
Supplement: ijms-24-15842-s001.zip › ijms-2650363-supplementary.pdf

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Abreu GM et al.

Frontiers in Endocrinology, 2022

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

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Borowiec M et al.

Clinical Genetics, 2012

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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."