Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.T196A
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HNF1A

NM_000545.8:p.T196A

Associated Papers

Hepatic adenomas in males: Is molecular characterization helpful in guiding its management?

Jain E et al.

Human Pathology, 2025

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

HNF1A:From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM et al.

Frontiers in Endocrinology, 2022

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s006.xlsx › SDC6

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

Althari S et al.

American Journal of Human Genetics, 2020

32910913 (PubMed )
Supplement: mmc1.pdf

Somatic Mutation Profiling in Premalignant Lesions of Vulvar Squamous Cell Carcinoma.

Zięba S et al.

International Journal of Molecular Sciences, 2020

32664330 (PubMed )
Supplement: ijms-21-04880-s001.zip › Table_S1_corrected.xlsx › Arkusz1

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.

Juszczak A et al.

Diabetes Care, 2019

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA et al.

Diabetes, 2017

27899486 (PubMed )
Supplement: DB160460SupplementaryData.pdf

Profiling of potential driver mutations in sarcomas by targeted next generation sequencing.

Andersson C et al.

Cancer Genetics, 2016

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent.

Bowden SA et al.

Pediatric Diabetes, 2008

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

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Galán M et al.

Molecular Medicine (cambridge, Mass.), 0

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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."