Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.R64W
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NAT2

NM_000015.3:p.R64W

Associated Papers

Clinical Pharmacogenetics Implementation Consortium Guideline for NAT2 Genotype and Hydralazine Therapy.

Eadon MT et al.

Clinical Pharmacology and Therapeutics, 2025

40974042 (PubMed )
Supplement: CPT-118-1430-s002.zip › NAT2_allele_definition_table.xlsx › Alleles

Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.

Yoon JG et al.

Experimental & Molecular Medicine, 2024

Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi® Long-Read and Illumina Short-Read Sequencing.

Barthélémy D et al.

Journal of Personalized Medicine, 2023

38138882 (PubMed )
Supplement: jpm-13-01655-s001.zip › jpm-2698327-supplementary.pdf

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Arylamine N-acetyltransferase acetylation polymorphisms: paradigm for pharmacogenomic-guided therapy- a focused review.

Hein DW et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Genetic variants of N-acetyltransferases 1 and 2 (NAT1 and NAT2) in cynomolgus and rhesus macaques.

Uno Y et al.

Biochemical Pharmacology, 2020

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Expression efficiency of NAT2 haplotypes in a Korean population.

Na HS et al.

Genes & Genetic Systems, 2017

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

Population pharmacokinetic analysis of isoniazid, acetylisoniazid, and isonicotinic acid in healthy volunteers.

Seng KY et al.

Antimicrobial Agents and Chemotherapy, 2015

Arylamine N-acetyltransferases: from drug metabolism and pharmacogenetics to drug discovery.

Sim E et al.

British Journal of Pharmacology, 2014

NAT2, XRCC1 and hOGG1 polymorphisms, cigarette smoking, alcohol consumption and risk of upper aerodigestive tract cancer.

Marques CR et al.

Anticancer Research, 2014

Polymorphism p.Val231Ile alters substrate selectivity of drug-metabolizing arylamine N-acetyltransferase 2 (NAT2) isoenzyme of rhesus macaque and human.

Tsirka T et al.

Gene, 2014

Full-gene-sequencing analysis of N-acetyltransferase-2 in an adult Indian population.

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

NAT2 polymorphisms with oral carcinoma susceptibility: a meta-analysis.

Zhuo XL et al.

Molecular Biology Reports, 2012

Acetylator status and N-acetyltransferase 2 gene polymorphisms; phenotype-genotype correlation with the sulfamethazine test.

Taja-Chayeb L et al.

Pharmacogenetics and Genomics, 2011

N-Acetyltransferase-2 (NAT2) gene polymorphisms and enzyme activity in Serbs: unprecedented high prevalence of rapid acetylators in a White population.

Djordjevic N et al.

Journal of Clinical Pharmacology, 2011

Effects of single nucleotide polymorphisms on human N-acetyltransferase 2 structure and dynamics by molecular dynamics simulation.

Rajasekaran M et al.

Plos One, 2011

Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.

Hao D et al.

Science China. Life Sciences, 2010

Sequence analysis of NAT2 gene in Brazilians: identification of undescribed single nucleotide polymorphisms and molecular modeling of the N-acetyltransferase 2 protein structure.

Teixeira RL et al.

Mutation Research, 2010

Comparison of genetic polymorphisms of the NAT2 gene between Korean and four other ethnic groups.

Kang TS et al.

Journal of Clinical Pharmacy and Therapeutics, 2009

N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine.

Hein DW

Expert Opinion on Drug Metabolism & Toxicology, 2009

Genetic polymorphism in N-Acetyltransferase (NAT): Population distribution of NAT1 and NAT2 activity.

Walker K et al.

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

Study of polymorphic variants C190T, G191A, G857A, and 859Del of the NAT2 gene by the method of restriction fragment length polymorphism.

Nikishina MV et al.

Bulletin of Experimental Biology and Medicine, 2008

Case-control study of oral and oropharyngeal cancer in whites and genetic variation in eight metabolic enzymes.

Buch SC et al.

Head & Neck, 2008

Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.

Walraven JM et al.

Current Drug Metabolism, 2008

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

Arylamine N-acetyltransferases: from structure to function.

Sim E et al.

Drug Metabolism Reviews, 2008

Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2.

Zang Y et al.

Carcinogenesis, 2007

Polymorphism of selected enzymes involved in detoxification and biotransformation in relation to lung cancer.

Gresner P et al.

Lung Cancer (amsterdam, Netherlands), 2007

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity.

Fuselli S et al.

The Pharmacogenomics Journal, 2007

Effects of single nucleotide polymorphisms in human N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic amine carcinogens.

Hein DW et al.

International Journal of Cancer, 2006

Arylamine N-acetyltransferase aggregation and constitutive ubiquitylation.

Liu F et al.

Journal of Molecular Biology, 2006

[Comparative analysis of N-acetylation polymorphism in humans as determined by phenotyping and genotyping].

Goldenkova-Pavlova IV et al.

Genetika, 2006

Discordance between N-acetyltransferase 2 phenotype and genotype in a population of Hmong subjects.

Straka RJ et al.

Journal of Clinical Pharmacology, 2006

N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk.

Hein DW

Oncogene, 2006

SNP selection at the NAT2 locus for an accurate prediction of the acetylation phenotype.

Sabbagh A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.

Machida H et al.

World Journal of Gastroenterology, 2005

'Comparison of extremes' approach provides evidence against the modifying role of NAT2 polymorphism in lung cancer susceptibility.

Belogubova EV et al.

Cancer Letters, 2005

Lack of association between arylamine N-acetyltransferase 2 (NAT2) polymorphism and systemic sclerosis.

Skretkowicz K et al.

European Journal of Clinical Pharmacology, 2005

TaqMan real time-polymerase chain reaction methods for determination of nucleotide polymorphisms in human N-acetyltransferase-1 (NAT1) and -2 (NAT2).

Hein DW et al.

Current Protocols in Toxicology, 2005

[Restriction analysis of N-acetyltransferase 2 gene in Caucasian population of West Siberia].

Nikishina MV et al.

Genetika, 2004

Restriction fragments length polymorphism in the NAT1 gene of Europeans in West Siberia.

Nikishina MV et al.

Bulletin of Experimental Biology and Medicine, 2003

Functional genomics of C190T single nucleotide polymorphism in human N-acetyltransferase 2.

Zhu Y et al.

Biological Chemistry, 2002

A pilot study investigating the role of NAT1 and NAT2 polymorphisms in gastric adenocarcinoma.

Boissy RJ et al.

International Journal of Cancer, 2000

Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene.

Shishikura K et al.

Human Mutation, 2000

Genetic epidemiology of environmental toxicity and cancer susceptibility: human allelic polymorphisms in drug-metabolizing enzyme genes, their functional importance, and nomenclature issues.

Nebert DW et al.

Drug Metabolism Reviews, 1999

A pilot study testing the association between N-acetyltransferases 1 and 2 and risk of oral squamous cell carcinoma in Japanese people.

Katoh T et al.

Carcinogenesis, 1998

Variants of N-acetyltransferase NAT1 and a case-control study of colorectal adenomas.

Lin HJ et al.

Pharmacogenetics, 1998

[The association of NAT2 polymorphisms with sporadic breast cancer].

Artamonov VV et al.

Molekuliarnaia Biologiia, 0

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