Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.D122N
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NAT2

NM_000015.3:p.D122N

Associated Papers

Pharmacogenomics and mutation informatics: correlation of NAT2 mutations and isoniazid acetylation rate.

Verma S et al.

Drug Discovery Today, 2026

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

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

Veldman W et al.

Acs Omega, 2025

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

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

Hein DW et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

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

NAT2 variants are associated with drug-induced liver injury caused by anti-tuberculosis drugs in Indonesian patients with tuberculosis.

Yuliwulandari R et al.

Journal of Human Genetics, 2016

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

Sim E et al.

British Journal of Pharmacology, 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

Structural and biochemical characterization of an active arylamine N-acetyltransferase possessing a non-canonical Cys-His-Glu catalytic triad.

Kubiak X et al.

The Journal of Biological Chemistry, 2013

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

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

Crystal structure of arylamine N-acetyltransferases: insights into the mechanisms of action and substrate selectivity.

Kubiak X et al.

Expert Opinion on Drug Metabolism & Toxicology, 2013

Arylamine N-acetyltransferase 2 genotypes in a Mexican population.

Taja-Chayeb L et al.

Genetics and Molecular Research : Gmr, 2012

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

Rajasekaran M et al.

Plos One, 2011

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

Probing the catalytic potential of the hamster arylamine N-acetyltransferase 2 catalytic triad by site-directed mutagenesis of the proximal conserved residue, Tyr190.

Zhou X et al.

The Febs Journal, 2009

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

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

Structural basis of substrate-binding specificity of human arylamine N-acetyltransferases.

Wu H et al.

The Journal of Biological Chemistry, 2007

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

Zang Y et al.

Carcinogenesis, 2007

Functional characterization of the A411T (L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2.

Zang Y et al.

Pharmacogenetics and Genomics, 2007

[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

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

Investigation of the catalytic triad of arylamine N-acetyltransferases: essential residues required for acetyl transfer to arylamines.

Sandy J et al.

The Biochemical Journal, 2005

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 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

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

Artamonov VV et al.

Molekuliarnaia Biologiia, 0

[Identification of functionally significant mutations in NAT2 gene using biological microchips].

Kozhekbaeva ZhM et al.

Molekuliarnaia Biologiia, 0

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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."