Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.R187*
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NAT1

NM_000662.8:p.R187*

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

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

A retrospective single-center pilot study of the genetic background of the transplanted kidney.

Novotna A et al.

Plos One, 2025

39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1

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

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table2.xlsx › Hoja1

Alteration of the risk of pre-oral cancer and cancer in North Indian population by NAT1 and NAT2 polymorphisms genotypes and haplotypes.

Nigam K et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2021

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

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

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Ung C et al.

Vision Research, 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

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F et al.

Clinical Genetics, 2016

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

Sim E et al.

British Journal of Pharmacology, 2014

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

Fu Z et al.

Carcinogenesis, 2013

Genetic polymorphisms in metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b] pyridine.

Kim D et al.

Journal of Applied Toxicology : Jat, 2013

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

Yassine IA et al.

Journal of Oncology, 2012

Well-done meat consumption, NAT1 and NAT2 acetylator genotypes and prostate cancer risk: the multiethnic cohort study.

Sharma S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

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

Broberg KE et al.

Pharmacogenetics and Genomics, 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

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

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

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

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

A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.

Landi S et al.

Experimental Lung Research, 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

Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

Soucek P et al.

Bmc Biotechnology, 2004

N-acetyltransferase 1 and 2 genotypes do not predict response or toxicity to treatment with mesalamine and sulfasalazine in patients with ulcerative colitis.

Ricart E et al.

The American Journal of Gastroenterology, 2002

Functional characterization of nucleotide polymorphisms in the coding region of N-acetyltransferase 1.

Fretland AJ et al.

Pharmacogenetics, 2001

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.

Gallou C et al.

Pharmacogenetics, 2001

Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.

Sekine A et al.

Journal of Human Genetics, 2001

A pilot study investigating the role of NAT1 and NAT2 polymorphisms in gastric adenocarcinoma.

Boissy RJ et al.

International Journal of Cancer, 2000

Inherited polymorphism in the N-acetyltransferase 1 (NAT1) and 2 (NAT2) genes and susceptibility to gastric and colorectal adenocarcinoma.

Katoh T et al.

International Journal of Cancer, 2000

A pilot study testing the association between N-acetyltransferases 1 and 2 and risk of oral squamous cell carcinoma in Japanese people.

Katoh T et al.

Carcinogenesis, 1998

Variants of N-acetyltransferase NAT1 and a case-control study of colorectal adenomas.

Lin HJ et al.

Pharmacogenetics, 1998

Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe.

Hughes NC et al.

Pharmacogenetics, 1998

Recombinant expression and catalytic analysis of rapid and slow acetylator Syrian hamster chimeric NAT2 alleles.

Hein DW et al.

Archives of Toxicology, 1997

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