Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.T521I
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HNF1A

NM_000545.8:p.T521I

Associated Papers

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

35299962 (PubMed )
Supplement: DataSheet_1.pdf

Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.

Horikawa Y et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

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

Identification of three new mutations of the HNF-1 alpha gene in Japanese MODY families.

Ikema T et al.

Diabetologia, 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."