Varaico: Literature-Extracted Genetic Variants

Gene:NAT1
Variant:p.D251V
Back to variants list

NAT1

NM_000662.8:p.D251V

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

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

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table3.xlsx › Hoja1

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

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

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

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

Sim E et al.

British Journal of Pharmacology, 2014

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

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

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

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

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

Arylamine N-acetyltransferase aggregation and constitutive ubiquitylation.

Liu F et al.

Journal of Molecular Biology, 2006

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

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

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

Nikishina MV et al.

Bulletin of Experimental Biology and Medicine, 2003

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

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

Lin HJ 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

NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.

García-Closas M et al.

Lancet (london, England), 0

Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.

Aarts JM et al.

Plos One, 0

27655273 (PubMed )
Supplement: pone.0161102.s001.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."