Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R140*
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HNF4A

NM_000457.6:p.R140*

Associated Papers

Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population.

Relan S et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.

Murray Leech J et al.

Nature Metabolism, 2025

40925988 (PubMed )
Supplement: 42255_2025_1372_MOESM1_ESM.pdf

Use of a Dual GIP/GLP-1 Receptor Agonist in HNF1A-MODY and HNF4A-MODY.

Broome DT et al.

Diabetes Care, 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 › UKB

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Saint-Martin C et al.

Diabetes, 2022

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

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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."