Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R263L
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HNF1A

NM_000545.8:p.R263L

Associated Papers

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.

DeForest N et al.

Cell Genomics, 2023

37492105 (PubMed )
Supplement: mmc4.xlsx › S3

HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.

Haque E et al.

Genes, 2022

Update on Monogenic Diabetes in Korea.

Yang YS et al.

Diabetes & Metabolism Journal, 2020

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hechtman JF et al.

Human Pathology, 2019

Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.

Mohammadi A et al.

Advanced Biomedical Research, 2019

Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.

Balamurugan K et al.

Clinical Genetics, 2016

Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?

Kim SH

Diabetes & Metabolism Journal, 2015

Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.

Jeannot E et al.

Diabetes, 2010

A missense TCF1 mutation in a patient with mody-3 and liver adenomatosis.

Lerario AM et al.

Clinics (sao Paulo, Brazil), 2010

MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells.

Fernandez-Zapico ME et al.

The Journal of Biological Chemistry, 2009

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 and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3.

Kim KA et al.

Diabetologia, 2003

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