Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E132K
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HNF1A

NM_000545.8:p.E132K

Associated Papers

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

Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations.

Brackenridge A et al.

Diabetes, 2006

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels.

Richter S et al.

Diabetes, 2003

Diabetes mutations delineate an atypical POU domain in HNF-1alpha.

Chi YI et al.

Molecular Cell, 2002

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

Frayling TM et al.

Diabetes, 2001

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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."