Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.R272S
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HNF1A

NM_000545.8:p.R272S

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

Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.

Haddouche A et al.

Journal of Diabetes, 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

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

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C et al.

Diabetes, 2008

Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.

Zucman-Rossi J et al.

Hepatology (baltimore, Md.), 2006

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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."