Varaico: Literature-Extracted Genetic Variants

Gene:NAT2
Variant:p.I158L
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NAT2

NM_000015.3:p.I158L

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

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

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

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

Matimba A et al.

Human Genomics, 2009

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."