Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.S214A
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NAT1

NM_000662.8:p.S214A

Associated Papers

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

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

Functional expression of human arylamine N-acetyltransferase NAT1*10 and NAT1*11 alleles: a mini review.

Hein DW et al.

Pharmacogenetics and Genomics, 2018

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

Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk.

Jang JH et al.

Carcinogenesis, 2012

Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity.

Wang D et al.

Pharmacogenetics and Genomics, 2011

Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions.

Zhu Y et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011

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

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

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

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

Phase I and II enzyme polymorphisms as risk factors for Barrett's esophagus and esophageal adenocarcinoma: a systematic review and meta-analysis.

Bull LM et al.

Diseases of the Esophagus : Official Journal of the International Society for Diseases of the Esophagus, 2009

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

Zhu Y et al.

The Pharmacogenomics Journal, 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

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

Walraven JM et al.

Drug Metabolism Reviews, 2008

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

Gresner P et al.

Lung Cancer (amsterdam, Netherlands), 2007

Loss of function polymorphisms in NAT1 protect against spina bifida.

Jensen LE et al.

Human Genetics, 2006

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

Li D et al.

Carcinogenesis, 2006

Mutational analysis of the DEAD-box RNA helicase eIF4AII characterizes its interaction with transformation suppressor Pdcd4 and eIF4GI.

Zakowicz H et al.

Rna (new York, N.y.), 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

GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.

Hung RJ et al.

International Journal of Cancer, 2004

NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant.

Johnson N et al.

Bmc Medical Genetics, 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

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 arylamine N-acetyltransferase (NAT1 and NAT2) genotypes with urinary bladder cancer risk.

Jaskuła-Sztul R et al.

Journal of Applied 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

Association of arylamine N-acetyltransferases NAT1 and NAT2 genotypes to laryngeal cancer risk.

Henning S et al.

Pharmacogenetics, 1999

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

Active cigarette smoking, variants in carcinogen metabolism genes and breast cancer risk among pre- and postmenopausal women in Ontario, Canada.

Cotterchio M et al.

The Breast Journal, 0

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