Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R67W
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HNF4A

NM_175914.5:p.R67W

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M et al.

Irish Journal of Medical Science, 2025

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Kaci A et al.

Human Molecular Genetics, 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

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

34789499 (PubMed )
Supplement: EMS140031-supplement-Supplementary_tables_1_to_8_and_Supplementary_figure_1.pdf

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.

Marchesin V et al.

Cell Reports, 2019

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

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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."