Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.E167K
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NAT2

NM_000015.3:p.E167K

Associated Papers

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

Verma S et al.

Drug Discovery Today, 2026

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

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1

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

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

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

Arylamine N-acetyltransferase 2 genotypes in a Mexican population.

Taja-Chayeb L et al.

Genetics and Molecular Research : Gmr, 2012

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

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

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

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

[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

Genetic polymorphisms of drug-metabolising enzymes and drug transporters in the chemotherapeutic treatment of cancer.

Bosch TM et al.

Clinical Pharmacokinetics, 2006

'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

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

Artamonov VV et al.

Molekuliarnaia Biologiia, 0

Acetylation genotype and phenotype in patients with systemic lupus erythematosus.

Rychlik-Sych M et al.

Pharmacological Reports : Pr, 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."