Varaico: Literature-Extracted Genetic Variants

Gene:CYP2E1
Variant:p.R76H
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CYP2E1

NM_000773.4:p.R76H

Associated Papers

Comprehensive functional characterization of rare and known CYP2E1 allelic variants identified in a Japanese population.

Ohmori Y et al.

Biochemical Pharmacology, 2025

Genetic and epigenetic determinants of fetal alcohol spectrum disorders: Toward a precision medicine approach.

Sessa F et al.

Experimental and Molecular Pathology, 2025

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study.

Vieiros M et al.

Bmc Genomics, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Frequency of Important CYP450 Enzyme Gene Polymorphisms in the Iranian Population in Comparison with Other Major Populations: A Comprehensive Review of the Human Data.

Neyshaburinezhad N et al.

Journal of Personalized Medicine, 2021

34442448 (PubMed )
Supplement: jpm-11-00804-s001.zip › jpm-1270394-supplementary.pdf

Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Nanki Y et al.

Scientific Reports, 2020

32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1

Functional characterization of the chlorzoxazone 6-hydroxylation activity of human cytochrome P450 2E1 allelic variants in Han Chinese.

Wang T et al.

Peerj, 2020

Polymorphisms of drug-metabolizing enzyme CYP2E1 in Chinese Uygur population.

Zhu L et al.

Medicine, 2018

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

Human cytochrome P450 2E1 mutations that alter mitochondrial targeting efficiency and susceptibility to ethanol-induced toxicity in cellular models.

Bansal S et al.

The Journal of Biological Chemistry, 2013

Relevance of CYP2E1 to non-alcoholic fatty liver disease.

Daly AK

Sub-cellular Biochemistry, 2013

CYP2E1*5B, CYP2E1*6, CYP2E1*7B, CYP2E1*2, and CYP2E1*3 allele frequencies in iranian populations.

Shahriary GM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.

Wang LL et al.

Alcohol (fayetteville, N.y.), 2010

Functional characterization of human cytochrome P4502E1 allelic variants: in vitro metabolism of benzene and toluene by recombinant enzymes expressed in yeast cells.

Hanioka N et al.

Archives of Toxicology, 2010

Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes.

Martínez C et al.

Hepatology (baltimore, Md.), 2010

Genetic polymorphism in CYP2E1: Population distribution of CYP2E1 activity.

Neafsey P et al.

Journal of Toxicology and Environmental Health. Part B, Critical Reviews, 2009

[Cancer pharmacogenetics: study of genetically determined variations on cancer susceptibility due to xenobiotic exposure].

Quiñones L et al.

Revista Medica De Chile, 2006

Genetic basis of toxic reactions to drugs and chemicals.

Cascorbi I

Toxicology Letters, 2006

The human genome project and novel aspects of cytochrome P450 research.

Ingelman-Sundberg M

Toxicology and Applied Pharmacology, 2005

Cytochrome P450 gene polymorphisms and risk of low birth weight.

Chen D et al.

Genetic Epidemiology, 2005

[Associations of genetic polymorphisms in the EPHX1 gene and the GSTT1 gene with low birth weight in neonates].

Liang HY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005

Human drug metabolising cytochrome P450 enzymes: properties and polymorphisms.

Ingelman-Sundberg M

Naunyn-schmiedeberg's Archives of Pharmacology, 2004

Functional characterization of three human cytochrome p450 2E1 variants with amino acid substitutions.

Hanioka N et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2003

The cytochrome P-450 isoenzyme CYP2E1 in the biological processing of industrial chemicals: consequences for occupational and environmental medicine.

Bolt HM et al.

International Archives of Occupational and Environmental Health, 2003

Pharmacogenetics of the major polymorphic metabolizing enzymes.

Daly AK

Fundamental & Clinical Pharmacology, 2003

Genetic susceptibility to adverse effects of drugs and environmental toxicants. The role of the CYP family of enzymes.

Ingelman-Sundberg M

Mutation Research, 2001

Metabolic and ethnic determinants of alcohol drinking habits and vulnerability to alcohol-related disorder.

Harada S et al.

Alcoholism, Clinical and Experimental Research, 2001

Mutations in the exons and exon-intron junction regions of human cytochrome P-4502E1 gene and alcoholism.

Itoga S et al.

Alcoholism, Clinical and Experimental Research, 1999

Functional consequences of polymorphism of xenobiotic metabolising enzymes.

Ingelman-Sundberg M

Toxicology Letters, 1998

[Genetic polymorphism of human CYP2E1: new allels detected in exons and exon-intron junctions].

Itoga S et al.

Nihon Arukoru Yakubutsu Igakkai Zasshi = Japanese Journal of Alcohol Studies & Drug Dependence, 1998

Genetic polymorphism of human CYP2E1: characterization of two variant alleles.

Hu Y et al.

Molecular Pharmacology, 1997

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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."