Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q250*
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HNF1A

NM_000545.8:p.Q250*

Associated Papers

HNF1A-inactived Hepatocellular Adenomas in Fibropolycystic Kidney and Liver Disease Are Associated With Germline HNF1B Variant.

Hagen CE et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.

Brahm AJ et al.

Canadian Journal of Diabetes, 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

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2004

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

Cao H et al.

Human Mutation, 2002

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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."