Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.K117E
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HNF1A

NM_000545.8:p.K117E

Associated Papers

Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α.

Chu Y et al.

Diabetes, 2023

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

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

Diagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extension.

Song JY et al.

Nucleic Acids Research, 2005

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

Frayling TM et al.

Diabetes, 2001

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S

Human Mutation, 2000

Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.

Ellard S et al.

Diabetes, 1999

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

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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."