Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q216*
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HNF1A

NM_000545.8:p.Q216*

Associated Papers

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Yarali O et al.

Molecular Syndromology, 2025

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

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 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

Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.

Vlachopapadopoulou EA et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

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

The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscle area in the pig.

Fan B et al.

Animal : an International Journal of Animal Bioscience, 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."