Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.P224A
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HNF1A

NM_000545.8:p.P224A

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

Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis.

Alarcon G et al.

Hormone Research in Paediatrics, 2025

Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.

Kavitha B et al.

Frontiers in Endocrinology, 2023

37396188 (PubMed )
Supplement: DataSheet_1.pdf

HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.

Haque E et al.

Genes, 2022

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hechtman JF et al.

Human Pathology, 2019

Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.

Jeannot E et al.

Diabetes, 2010

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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."