Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA3
Variant:p.K434E
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PNPLA3

NM_025225.3:p.K434E

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.

Cacciottolo TM et al.

Diabetes, 2025

40854221 (PubMed )
Supplement: db250209_supp.pdf

Fifteen Years of PNPLA3: Transforming Hepatology Through Human Genetics.

Romeo S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

PNPLA3-Ile148Met and TM6SF2-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.

Yao H et al.

Frontiers in Endocrinology, 2025

Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Park J et al.

Cell Reports. Medicine, 2022

Molecular Screening via Sanger Sequencing of the Genetic Variants in Non-Alcoholic Fatty Liver Disease Subjects in the Saudi Population: A Hospital-Based Study.

Alsaif F et al.

Metabolites, 2022

A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction.

Nakajima R et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric mice.

Kabbani M et al.

Cell Reports, 2022

A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Jian M et al.

Journal of Translational Medicine, 2020

32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV

Association between PNPLA3 gene polymorphisms and risk of hepatitis B virus-related hepatocellular carcinoma in Han population in China:a case-control study.

Gao X et al.

Scandinavian Journal of Gastroenterology, 2017

Screening for rare variants in the PNPLA3 gene in obese liver biopsy patients.

Zegers D et al.

Clinics and Research in Hepatology and Gastroenterology, 2016

Meta-analysis of the influence of TM6SF2 E167K variant on Plasma Concentration of Aminotransferases across different Populations and Diverse Liver Phenotypes.

Sookoian S et al.

Scientific Reports, 2016

Hepatic patatin-like phospholipase domain-containing protein 3 sequence, single nucleotide polymorphism presence, protein confirmation, and responsiveness to energy balance in dairy cows.

McCann CC et al.

Journal of Dairy Science, 2014

Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Gerhard GS et al.

Human Heredity, 2013

PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease.

Sookoian S et al.

World Journal of Gastroenterology, 2012

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Romeo S et al.

Nature Genetics, 2008

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

Yuan X et al.

American Journal of Human Genetics, 2008

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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."