Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.V246L
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HNF1A

NM_000545.8:p.V246L

Associated Papers

An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.

Kickova T et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2024

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.

DeForest N et al.

Cell Genomics, 2023

37492105 (PubMed )
Supplement: mmc4.xlsx › S3

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

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.

Misra S et al.

Diabetes Care, 2020

32001615 (PubMed )
Supplement: DC191843SupplementaryData.pdf

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

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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."