Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.R64W
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NAT1

NM_000662.8:p.R64W

Associated Papers

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

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

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

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

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

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

Artificial targeting of misfolded cytosolic proteins to endoplasmic reticulum as a mechanism for clearance.

Liu F et al.

Scientific Reports, 2015

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

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

Fu Z et al.

Carcinogenesis, 2013

Crystal structure of arylamine N-acetyltransferases: insights into the mechanisms of action and substrate selectivity.

Kubiak X et al.

Expert Opinion on Drug Metabolism & Toxicology, 2013

Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.

Hao D et al.

Science China. Life Sciences, 2010

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

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

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

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

Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.

Walraven JM et al.

Current Drug Metabolism, 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

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

Walraven JM et al.

Drug Metabolism Reviews, 2008

Arylamine N-acetyltransferases: from structure to function.

Sim E 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

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

Effects of single nucleotide polymorphisms in human N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic amine carcinogens.

Hein DW et al.

International Journal of Cancer, 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

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

Bosch TM et al.

Clinical Pharmacokinetics, 2006

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

Restriction fragments length polymorphism in the NAT1 gene of Europeans in West Siberia.

Nikishina MV et al.

Bulletin of Experimental Biology and Medicine, 2003

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

Pharmacogenetic analysis of adverse drug effect reveals genetic variant for susceptibility to liver toxicity.

Acuña G et al.

The Pharmacogenomics Journal, 2002

Real-time PCR analysis of the N-acetyltransferase NAT1 allele *3, *4, *10, *11, *14 and *17 polymorphism in squamous cell cancer of head and neck.

Fronhoffs S et al.

Carcinogenesis, 2001

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

Characterization of naturally occurring and recombinant human N-acetyltransferase variants encoded by NAT1.

de León JH et al.

Molecular Pharmacology, 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

Genetic epidemiology of environmental toxicity and cancer susceptibility: human allelic polymorphisms in drug-metabolizing enzyme genes, their functional importance, and nomenclature issues.

Nebert DW et al.

Drug Metabolism Reviews, 1999

Symposium overview: the role of genetic polymorphism and repair deficiencies in environmental disease.

Hulla JE et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 1999

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

Functional polymorphism of the human arylamine N-acetyltransferase type 1 gene caused by C190T and G560A mutations.

Butcher NJ et al.

Pharmacogenetics, 1998

[Use of restriction endonucleases Bst2U I and Acc65 I to detect Kpn I polymorphism of NAT2 gene].

Nikishina MV et al.

Biomeditsinskaia Khimiia, 0

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