Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.K268R
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NAT1

NM_000662.8:p.K268R

Associated Papers

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

Lopes MQP et al.

Frontiers in Pharmacology, 2023

Reduction of mNAT1/hNAT2 Contributes to Cerebral Endothelial Necroptosis and Aβ Accumulation in Alzheimer's Disease.

Zou C et al.

Cell Reports, 2020

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

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

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

Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations.

Talbot J et al.

Bmc Genetics, 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

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

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

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

Walraven JM et al.

Current Drug Metabolism, 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

Functional characterization of the A411T (L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2.

Zang Y et al.

Pharmacogenetics and Genomics, 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

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

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

Meta-analysis of phenotype and genotype of NAT2 deficiency in Chinese populations.

Xie HG et al.

Pharmacogenetics, 1997

A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid.

Smith CA et al.

Journal of Medical Genetics, 1997

Identification of a novel allele at the human NAT1 acetyltransferase locus.

Doll MA et al.

Biochemical and Biophysical Research Communications, 1997

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

Kozhekbaeva ZhM et al.

Molekuliarnaia Biologiia, 0

Arylamine N-acetyltransferase 2 Polymorphisms and the Risk of Endometriosis.

Fayez D et al.

Avicenna Journal of Medical Biotechnology, 0

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