Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.R197Q
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NAT1

NM_000662.8:p.R197Q

Associated Papers

The rs1801280 SNP is associated with non-small cell lung carcinoma by exhibiting a highly deleterious effect on N-acetyltransferase 2.

Lawi ZK et al.

Journal of Cancer Research and Clinical Oncology, 2023

Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas.

Lopes MQP et al.

Frontiers in Pharmacology, 2023

Association of NAT2 genetic polymorphism with the efficacy of Neurotropin® for the enhancement of aggrecan gene expression in nucleus pulposus cells: a pilot study.

Nakai T et al.

Bmc Medical Genomics, 2021

Genotype-Environment Interaction Analysis of NQO1, CYP2E1, and NAT2 Polymorphisms and the Risk of Childhood Acute Lymphoblastic Leukemia: A Report From the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia.

Medina-Sanson A et al.

Frontiers in Oncology, 2020

N-acetyl transferase 2/environmental factors and their association as a modulating risk factor for sporadic colon and rectal cancer.

Procopciuc LM et al.

Journal of Clinical Laboratory Analysis, 2017

NAT2 polymorphisms and risk for Parkinson's disease: a systematic review and meta-analysis.

Jiménez-Jiménez FJ et al.

Expert Opinion on Drug Metabolism & Toxicology, 2016

Differential association for N-acetyltransferase 2 genotype and phenotype with bladder cancer risk in Chinese population.

Quan L et al.

Oncotarget, 2016

Expression of NAT2 in immune system cells and the relation of NAT2 gene polymorphisms in the anti-tuberculosis therapy in Mexican mestizo population.

Salazar-González R et al.

Molecular Biology Reports, 2014

Full-gene-sequencing analysis of N-acetyltransferase-2 in an adult Indian population.

Tilak AV et al.

Genetic Testing and Molecular Biomarkers, 2013

Genetic variability in N-acetyltransferase 2 gene determines susceptibility to childhood lymphoid or myeloid leukemia in Brazil.

Zanrosso CW et al.

Leukemia & Lymphoma, 2012

Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes.

Hein DW et al.

Pharmacogenomics, 2012

Polymorphism of N-acetyltransferase 2 gene and the susceptibility to alcoholic liver cirrhosis: interaction with smoking.

Yang KC et al.

Alcoholism, Clinical and Experimental Research, 2011

Modulation of urinary polycyclic aromatic hydrocarbon metabolites by enzyme polymorphisms in workers of the German Human Bitumen Study.

Rihs HP et al.

Archives of Toxicology, 2011

Effects of single nucleotide polymorphisms on human N-acetyltransferase 2 structure and dynamics by molecular dynamics simulation.

Rajasekaran M et al.

Plos One, 2011

Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations.

Talbot J et al.

Bmc Genetics, 2010

N-acetyltransferase 1 and 2 gene sequence variants and risk of head and neck cancer.

Demokan S et al.

Molecular Biology Reports, 2010

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

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

Aromatic DNA adducts and polymorphisms in metabolic genes in healthy adults: findings from the EPIC-Spain cohort.

Agudo A et al.

Carcinogenesis, 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

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

Walraven JM et al.

Current Drug Metabolism, 2008

Genetic susceptibility to atopic dermatitis.

Kiyohara C et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2008

Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

Sabbagh A et al.

Bmc Genetics, 2008

Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2.

Zang Y et al.

Carcinogenesis, 2007

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

Gresner P et al.

Lung Cancer (amsterdam, Netherlands), 2007

Association of NAT2 gene substitution mutation T341C with increased risk for head and neck cancer in Tunisia.

Gara S et al.

Acta Oncologica (stockholm, Sweden), 2007

[Detection of mutation in NAT II gene as a method of determination of izoniazyd (INH) acetylation type in human population].

Augustynowicz-Kopeć E et al.

Pneumonologia I Alergologia Polska, 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

N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk.

Hein DW

Oncogene, 2006

[Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma: the Tunisia experience].

Bendjemana K et al.

Bulletin Du Cancer, 2006

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

Patin E et al.

American Journal of Human Genetics, 2006

Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.

Machida H et al.

World Journal of Gastroenterology, 2005

NAT2 slow acetylation and GSTM1 null genotypes may increase postmenopausal breast cancer risk in long-term smoking women.

van der Hel OL et al.

Pharmacogenetics, 2003

Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.

Hamdy SI et al.

British Journal of Clinical Pharmacology, 2003

Analysis of six SNPs of NAT2 in Ngawbe and Embera Amerindians of Panama and determination of the Embera acetylation phenotype using caffeine.

Jorge-Nebert LF et al.

Pharmacogenetics, 2002

Relevance of N-acetyltransferase 1 and 2 (NAT1, NAT2) genetic polymorphisms in non-small cell lung cancer susceptibility.

Wikman H 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

N-acetyltransferase polymorphisms and colorectal cancer: a HuGE review.

Brockton N et al.

American Journal of Epidemiology, 2000

Relationship between acetylation polymorphism and risk of atopic diseases.

Gawrońska-Szklarz B et al.

Clinical Pharmacology and Therapeutics, 1999

[HbC/beta-thalassemia association. Eleven cases observed in Tunisia].

Fattoum S et al.

Annales De Pediatrie, 1993

[Identification of functionally significant mutations in NAT2 gene using biological microchips].

Kozhekbaeva ZhM et al.

Molekuliarnaia Biologiia, 0

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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."