Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Y218C
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HNF1A

NM_000545.8:p.Y218C

Associated Papers

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S et al.

Acta Diabetologica, 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

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.

Tong L et al.

Theranostics, 2019

31534501 (PubMed )
Supplement: thnov09p5532s1.pdf

Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants.

Dardiotis E et al.

Environment International, 2018

Hepatocyte nuclear factor-α genetic mutation in a Chinese pedigree with maturity-onset diabetes of the young (MODY3).

Zhang M et al.

Diabetes/metabolism Research and Reviews, 2015

26436572 (PubMed )
Supplement: supplement_1.pdf

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

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

Two Caucasian families with the hepatocyte nuclear factor-1alpha mutation Tyr218Cys.

Hummel M et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 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

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

Zucman-Rossi J et al.

Hepatology (baltimore, Md.), 2006

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.

Winter WE

Reviews in Endocrine & Metabolic Disorders, 2003

A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.

Jap TS et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2000

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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."