Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.L135V
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NAT2

NM_000015.3:p.L135V

Associated Papers

PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.

Papanikolaou G et al.

Clinical Pharmacology and Therapeutics, 2025

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

Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios.

Poku-Adusei E et al.

Journal of Personalized Medicine, 2025

41149818 (PubMed )
Supplement: jpm-15-00456-s001.zip › jpm-3794577-supplementary.pdf

Homozygotes NAT2*5B slow acetylators are highly associated with hepatotoxicity induced by anti-tuberculosis drugs.

El-Jaick KB et al.

Memorias Do Instituto Oswaldo Cruz, 2022

Determination of NAT2 acetylation status in the Greenlandic population.

Geller F et al.

Archives of Toxicology, 2016

Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa.

Podgorná E et al.

Bmc Evolutionary Biology, 2015

26620671 (PubMed )
Supplement: 12862_2015_543_MOESM4_ESM.xlsx › Table_S1

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

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

Study of NAT2 genetic polymorphism in West African subjects: example of an healthy non-smoker Senegalese population.

Touré A et al.

Molecular Biology Reports, 2012

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

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

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Matimba A et al.

Human Genomics, 2009

Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

Sabbagh A et al.

Bmc Genetics, 2008

Genetic profile of the arylamine N-acetyltransferase 2 coding gene among individuals from two different regions of Brazil.

Teixeira RL et al.

Mutation Research, 2007

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.

Patin E et al.

Human Mutation, 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."