Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L107R
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HNF1A

NM_000545.8:p.L107R

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

Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24.

Kim SH et al.

Diabetes, 2003

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

Chi YI et al.

Molecular Cell, 2002

Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

Ryffel GU

Journal of Molecular Endocrinology, 2001

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

Ellard S

Human Mutation, 2000

Molecular and biochemical analysis of the MODY syndromes.

Winter WE

Pediatric Diabetes, 2000

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.

Yoshiuchi I et al.

Diabetologia, 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

Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.

Gragnoli C et al.

Diabetes, 1997

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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."