Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R89Q
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HNF4A

NM_000457.6:p.R89Q

Associated Papers

Opening closed inward rectifier potassium channel doors.

Stary-Weinzinger A et al.

British Journal of Pharmacology, 2026

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Sharp LN et al.

Diabetes, 2026

41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

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

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

A Case of a 13-Year-Old Female With Maturity Onset Diabetes of the Young (MODY) Identified by School-Based Cardiovascular Screening.

Gordon K et al.

Global Pediatric Health, 2019

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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."