Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.R268K
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NAT2

NM_000015.3:p.R268K

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 › Notes

Residue Variations in Human N‑Acetyltransferase 2 Enzyme Alleles: From Rapid to Slow Acetylation.

Veldman W et al.

Acs Omega, 2025

40787317 (PubMed )
Supplement: ao5c02316_si_001.pdf

Allele-specific detection of isoniazid metabolism modulating variants of N-acetyltransferase 2 enzyme and their frequencies in the Bangladeshi population.

Khan NT et al.

Gene, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

Towards pharmacogenomics-guided tuberculosis (TB) therapy: N-acetyltransferase-2 genotypes among TB-infected Kenyans of mixed ethnicity.

Njagi LN et al.

Bmc Medical Genomics, 2024

Very important pharmacogenes polymorphism landscape and potential clinical relevance in the Chinese Mongolian.

Guo L et al.

Gene, 2023

The rs1801280 SNP is associated with non-small cell lung carcinoma by exhibiting a highly deleterious effect on N-acetyltransferase 2.

Lawi ZK et al.

Journal of Cancer Research and Clinical Oncology, 2023

Pharmacogenetics of anxiety and depression in Alzheimer's disease.

Cacabelos R et al.

Pharmacogenomics, 2023

Clinical Significance of NAT2 Genetic Variations in Type II Diabetes Mellitus and Lipid Regulation.

Jarrar Y et al.

Pharmacogenomics and Personalized Medicine, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table1.xlsx › Hoja1

Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.

Levano KS et al.

Molecular Genetics & Genomic Medicine, 2021

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

Hein DW et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Fonseca DJ et al.

Pharmacogenomics and Personalized Medicine, 2021

Study on Genotyping Polymorphism and Sequencing of N-Acetyltransferase 2 (NAT2) among Al-Ahsa Population.

Zahra MA et al.

Biomed Research International, 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Sequence analysis of the N-acetyltransferase 2 gene (NAT2) among Jordanian volunteers.

Jarrar YB et al.

The Libyan Journal of Medicine, 2018

Population genetic difference of pharmacogenomic VIP gene variants in the Lisu population from Yunnan Province.

Zhang C et al.

Medicine, 2018

Effect of Genetic Variation of NAT2 on Isoniazid and SLCO1B1 and CES2 on Rifampin Pharmacokinetics in Ghanaian Children with Tuberculosis.

Dompreh A et al.

Antimicrobial Agents and Chemotherapy, 2018

Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population.

Feki-Tounsi M et al.

Environmental Science and Pollution Research International, 2017

Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review.

Constantinescu SM et al.

Bmc Nephrology, 2017

Expression efficiency of NAT2 haplotypes in a Korean population.

Na HS et al.

Genes & Genetic Systems, 2017

Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.

Rozenblum E et al.

Plos One, 2017

28787462 (PubMed )
Supplement: pone.0182610.s001.xlsx › H1-Ea-La_mut

A Comprehensive Meta-analysis of Case-Control Association Studies to Evaluate Polymorphisms Associated with the Risk of Differentiated Thyroid Carcinoma.

Figlioli G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2016

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

Umamaheswaran G et al.

The Indian Journal of Medical Research, 2014

Association of CYP1A1 and CYP2D6 gene polymorphisms with head and neck cancer in Tunisian patients.

Khlifi R et al.

Molecular Biology Reports, 2014

NAT2 genetic variations among South Indian populations.

Lakkakula S et al.

Human Genome Variation, 2014

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

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

Are centenarians genetically predisposed to lower disease risk?

Ruiz JR et al.

Age (dordrecht, Netherlands), 2012

Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.

Wong ML et al.

Molecular Psychiatry, 2012

Association of XRCC1, XRCC3, and NAT2 polymorphisms with the risk of oral submucous fibrosis among eastern Indian population.

Mukherjee S et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2012

Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes.

Hein DW et al.

Pharmacogenomics, 2012

Can we predict top-level sports performance in power vs endurance events? A genetic approach.

Buxens A et al.

Scandinavian Journal of Medicine & Science in Sports, 2011

Modulation of urinary polycyclic aromatic hydrocarbon metabolites by enzyme polymorphisms in workers of the German Human Bitumen Study.

Rihs HP et al.

Archives of Toxicology, 2011

Are elite endurance athletes genetically predisposed to lower disease risk?

Gómez-Gallego F et al.

Physiological Genomics, 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

Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.

Canova C et al.

Cancer Research, 2009

Variation of the N-acetyltransferase 2 gene in a Romanian and a Kyrgyz population.

Rabstein S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

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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."