Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.R187Q
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NAT1

NM_000662.8:p.R187Q

Associated Papers

Single Nucleotide Polymorphisms in Oxidative Stress-Related Genes Are Associated with Autism Spectrum Disorders.

Spoto G et al.

International Journal of Molecular Sciences, 2025

Characterization of NAT, GST, and CYP2E1 Genetic Variation in Sub-Saharan African Populations: Implications for Treatment of Tuberculosis and Other Diseases.

Malinga TVB et al.

Clinical Pharmacology and Therapeutics, 2025

Bioactivation, Mutagenicity, DNA Damage, and Oxidative Stress Induced by 3,4-Dimethylaniline.

Habil MR et al.

Biomolecules, 2024

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

Effects of dose and human N-acetyltransferase 1 genetic polymorphism in benzidine metabolism and genotoxicity.

Habil MR et al.

Archives of Toxicology, 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

560G>A (rs4986782) (R187Q) Single Nucleotide Polymorphism in Arylamine N-Acetyltransferase 1 Increases Affinity for the Aromatic Amine Carcinogens 4-Aminobiphenyl and N-Hydroxy-4-Aminobiphenyl: Implications for Cancer Risk Assessment.

Doll MA et al.

Frontiers in Pharmacology, 2022

Acetyl coenzyme A kinetic studies on N-acetylation of environmental carcinogens by human N-acetyltransferase 1 and its NAT1*14B variant.

Habil MR et al.

Frontiers in Pharmacology, 2022

NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure.

Brooks CC et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 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

Slow N-acetylation as a possible contributor to bladder carcinogenesis.

El Kawak M et al.

Molecular Carcinogenesis, 2020

Population variability of rhesus macaque (Macaca mulatta) NAT1 gene for arylamine N-acetyltransferase 1: Functional effects and comparison with human.

Boukouvala S et al.

Scientific Reports, 2019

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

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

Genetic polymorphisms of arylamine N-acetyltransferases 1 and 2 and the likelihood of developing pediatric acute lymphoblastic leukemia.

Hernández-González O et al.

Leukemia & Lymphoma, 2018

Arylamine N-acetyltransferase 1 in situ N-acetylation on CD3+ peripheral blood mononuclear cells correlate with NATb mRNA and NAT1 haplotype.

Salazar-González RA et al.

Archives of Toxicology, 2018

Structural and functional effects of nucleotide variation on the human TB drug metabolizing enzyme arylamine N-acetyltransferase 1.

Cloete R et al.

Journal of Molecular Graphics & Modelling, 2017

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

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

Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps.

Fu Z et al.

Carcinogenesis, 2013

Phenotype of the most common "slow acetylator" arylamine N-acetyltransferase 1 genetic variant (NAT1*14B) is substrate-dependent.

Millner LM et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk.

Eichholzer M et al.

International Journal of Molecular Epidemiology and Genetics, 2012

N-Acetyltransferase 1 (NAT1) Genotype: A Risk Factor for Urinary Bladder Cancer in a Lebanese Population.

Yassine IA et al.

Journal of Oncology, 2012

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

Carter TC et al.

American Journal of Medical Genetics. Part A, 2011

The GSTP1 Ile105 Val polymorphism modifies the metabolism of toluene di-isocyanate.

Broberg KE et al.

Pharmacogenetics and Genomics, 2010

Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphoma.

Kilfoy BA et al.

Cancer Causes & Control : Ccc, 2010

Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.

Gemignani F et al.

Mutation Research, 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

Arylamine N-acetyltransferases: structural and functional implications of polymorphisms.

Sim E et al.

Toxicology, 2008

Functional effects of single nucleotide polymorphisms in the coding region of human N-acetyltransferase 1.

Zhu Y et al.

The Pharmacogenomics Journal, 2008

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.

Zienolddiny S et al.

Carcinogenesis, 2008

Interaction of the cytochrome P4501A2, SULT1A1 and NAT gene polymorphisms with smoking and dietary mutagen intake in modification of the risk of pancreatic cancer.

Suzuki H et al.

Carcinogenesis, 2008

Influence of genetic factors on toluene diisocyanate-related symptoms: evidence from a cross-sectional study.

Broberg K et al.

Environmental Health : a Global Access Science Source, 2008

Sequence variants of NAT1 and NAT2 and other xenometabolic genes and risk of lung and aerodigestive tract cancers in Central Europe.

McKay JD et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Structure-function analyses of single nucleotide polymorphisms in human N-acetyltransferase 1.

Walraven JM et al.

Drug Metabolism Reviews, 2008

Haplotype of N-acetyltransferase 1 and 2 and risk of pancreatic cancer.

Jiao L et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

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

Wu H et al.

The Journal of Biological Chemistry, 2007

Polymorphism of selected enzymes involved in detoxification and biotransformation in relation to lung cancer.

Gresner P et al.

Lung Cancer (amsterdam, Netherlands), 2007

Development of lung cancer before the age of 50: the role of xenobiotic metabolizing genes.

Gemignani F et al.

Carcinogenesis, 2007

Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma.

Mahid SS et al.

Bmc Medical Genetics, 2007

Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps.

Goode EL et al.

Carcinogenesis, 2007

Polymorphisms in GSTT1, GSTM1, NAT1 and NAT2 genes and bladder cancer risk in men and women.

McGrath M et al.

Bmc Cancer, 2006

Arylamine N-acetyltransferase aggregation and constitutive ubiquitylation.

Liu F et al.

Journal of Molecular Biology, 2006

Loss of function polymorphisms in NAT1 protect against spina bifida.

Jensen LE et al.

Human Genetics, 2006

NAT2 slow acetylation and bladder cancer in workers exposed to benzidine.

Carreón T et al.

International Journal of Cancer, 2006

Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer.

Li D et al.

Carcinogenesis, 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."