Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S340Splc
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GCK

NM_000162.5:p.S340Splc

Associated Papers

Continuous Glucose Monitoring in Glucokinase-maturity-onset Diabetes of the Young Pregnancy: A Treatment Paradigm Change.

Gardner DS et al.

Jcem Case Reports, 2025

The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.

Butnariu LI et al.

International Journal of Molecular Sciences, 2024

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_Family_Members

Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes.

Jiang Y et al.

Molecular and Cellular Biochemistry, 2022

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC et al.

Clinical Chemistry, 2020

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Giuffrida FMA et al.

Diabetes Research and Clinical Practice, 2017

A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY.

Bishay RH et al.

The Medical Journal of Australia, 2016

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

Johansen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."