Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.K170R
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GCK

NM_033507.3:p.K170R

Associated Papers

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Sanri A et al.

Pediatric Diabetes, 2025

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

Üstay Ö et al.

Archives of Endocrinology and Metabolism, 2022

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Yalçıntepe S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.

Haliloglu B et al.

Clinical Endocrinology, 2016

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Demirbilek H et al.

European Journal of Endocrinology, 2015

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A et al.

Human Molecular Genetics, 2014

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

24411943 (PubMed )
Supplement: mmc1.pdf
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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."