Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E18K
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HNF1A

NM_000545.8:p.E18K

Associated Papers

Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma.

Guo T et al.

Frontiers in Oncology, 2024

38505587 (PubMed )
Supplement: Table_2.xlsx › Patient_4

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Stalbow LA et al.

Diabetologia, 2023

36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Daggag H et al.

Metabolism Open, 2022

Incidence of HNF1A and GCK MODY Variants in a South African Population.

Matsha TE et al.

The Application of Clinical Genetics, 2020

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

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 HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

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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."