NAT1 c.559C>T ;(p.R187*)

Variant ID: 8-18080115-C-T

NM_000662.5(NAT1):c.559C>T;(p.R187*)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: NAT1: 559C>T; Arg187Ter
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



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

Frontiers In Pharmacology
Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2022

Variant appearance in text: NAT1: 559C>T; Arg187Ter; rs5030839
PubMed Link: 35846994
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



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.

Frontiers In Pharmacology
Doll, Mark A MA; Hein, David W DW
Publication Date: 2022

Variant appearance in text: rs5030839
PubMed Link: 35273499
Variant Present in the following documents:
  • Main text
  • fphar-13-820082.pdf
View BVdb publication page



The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs5030839
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: NAT1: 559C>T; R187X; rs5030839
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.

Pharmacogenomics And Personalized Medicine
Borro, Marina M; Gentile, Giovanna G; Preissner, Sally H SH; Pomes, Leda Marina LM; Gohlke, Björn-Oliver BO; Del Casale, Antonio A; Eckert, Andreas A; Marchetti, Paolo P; Preissner, Saskia S; Preissner, Robert R; Simmaco, Maurizio M
Publication Date: 2021

Variant appearance in text: rs5030839
PubMed Link: 34385834
Variant Present in the following documents:
  • Main text
  • pgpm-14-955.pdf
View BVdb publication page



Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.

Pharmaceuticals (Basel, Switzerland)
Roberto, Michela M; Rossi, Alessandro A; Panebianco, Martina M; Pomes, Leda Marina LM; Arrivi, Giulia G; Ierinò, Debora D; Simmaco, Maurizio M; Marchetti, Paolo P; Mazzuca, Federica F
Publication Date: 2021-01-15

Variant appearance in text: rs5030839
PubMed Link: 33467633
Variant Present in the following documents:
  • pharmaceuticals-14-00067-s001.pdf
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: NAT1: R187X; rs5030839
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: NAT1: 559C>T; R187X; rs5030839
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Population variability of rhesus macaque (Macaca mulatta) NAT1 gene for arylamine N-acetyltransferase 1: Functional effects and comparison with human.

Scientific Reports
Boukouvala, Sotiria S; Chasapopoulou, Zoi Z; Giannouri, Despina D; Kontomina, Evanthia E; Marinakis, Nikolaos N; Rizou, Sophia V SV; Stefani, Ioanna I; Tsirka, Theodora T; Veyssière, Charlotte C; Zaliou, Sofia S; Sabbagh, Audrey A; Crouau-Roy, Brigitte B; Fakis, Giannoulis G
Publication Date: 2019-07-29

Variant appearance in text: NAT1: 559C>T; Arg187Ter; rs5030839
PubMed Link: 31358821
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_47485.pdf
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: NAT1: R187X; rs5030839
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt.

Scientific Reports
Rösler, Thomas W TW; Salama, Mohamed M; Shalash, Ali S AS; Khedr, Eman M EM; El-Tantawy, Abdelhalim A; Fawi, Gharib G; El-Motayam, Amal A; El-Seidy, Ehab E; El-Sherif, Mohamed M; El-Gamal, Mohamed M; Moharram, Mohamed M; El-Kattan, Mohammad M; Abdel-Naby, Muhammad M; Ashour, Samia S; Müller, Ulrich U; Dempfle, Astrid A; Kuhlenbäumer, Gregor G; Höglinger, Günter U GU
Publication Date: 2018-11-08

Variant appearance in text: rs5030839
PubMed Link: 30410011
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_35003.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: NAT1: R187X; rs5030839
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2018-05

Variant appearance in text: rs5030839
PubMed Link: 29681089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs5030839
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: NAT1: R187X; rs5030839
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Vision Research
Ung, Cindy C; Sanchez, Angie V AV; Shen, Lishuang L; Davoudi, Samaneh S; Ahmadi, Tina T; Navarro-Gomez, Daniel D; Chen, Ching J CJ; Hancock, Heather H; Penman, Alan A; Hoadley, Suzanne S; Consugar, Mark M; Restrepo, Carlos C; Shah, Vinay A VA; Arboleda-Velasquez, Joseph F JF; Sobrin, Lucia L; Gai, Xiaowu X; Kim, Leo A LA
Publication Date: 2017-10

Variant appearance in text: rs5030839
PubMed Link: 28431867
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: NAT1: 559C>T; R187*; rs5030839
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs5030839
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
  • fpc-27-089-s004.xlsx, sheet 2
View BVdb publication page



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

Plos One
Aarts, Jac M M J G JM; Alink, Gerrit M GM; Scherjon, Fulco F; MacDonald, Katharine K; Smith, Alison C AC; Nijveen, Harm H; Roebroeks, Wil W
Publication Date: 2016

Variant appearance in text: NAT1: Arg187Ter; rs5030839
PubMed Link: 27655273
Variant Present in the following documents:
  • Main text
  • pone.0161102.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: NAT1: R187X
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics
Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM
Publication Date: 2016-01-19

Variant appearance in text: rs5030839
PubMed Link: 26785747
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_329.pdf
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs5030839
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs5030839
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: NAT1: 559C>T; R187X; rs5030839
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics in Jewish populations.

Drug Metabolism And Drug Interactions
Yang, Yao Y; Peter, Inga I; Scott, Stuart A SA
Publication Date: 2014

Variant appearance in text: NAT1: 559C>T; R187X; rs5030839
PubMed Link: 24867283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: NAT1: R187*
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-5.xlsx, sheet 1
  • NIHMS551112-supplement-8.xlsx, sheet 1
View BVdb publication page



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

Carcinogenesis
Fu, Zhenming Z; Shrubsole, Martha J MJ; Li, Guoliang G; Smalley, Walter E WE; Hein, David W DW; Cai, Qiuyin Q; Ness, Reid M RM; Zheng, Wei W
Publication Date: 2013-04

Variant appearance in text: NAT1: R187X; rs5030839
PubMed Link: 23299405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps.

The American Journal Of Clinical Nutrition
Fu, Zhenming Z; Shrubsole, Martha J MJ; Li, Guoliang G; Smalley, Walter E WE; Hein, David W DW; Chen, Zhi Z; Shyr, Yu Y; Cai, Qiuyin Q; Ness, Reid M RM; Zheng, Wei W
Publication Date: 2012-11

Variant appearance in text: rs5030839
PubMed Link: 23015320
Variant Present in the following documents:
  • Main text
View BVdb publication page



N-Acetyltransferase 1 (NAT1) Genotype: A Risk Factor for Urinary Bladder Cancer in a Lebanese Population.

Journal Of Oncology
Yassine, Ibrahim A IA; Kobeissi, Loulou L; Jabbour, Michel E ME; Dhaini, Hassan R HR
Publication Date: 2012

Variant appearance in text: rs5030839
PubMed Link: 22956951
Variant Present in the following documents:
  • Main text
  • JO2012-512976.pdf
View BVdb publication page



Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study.

Bmc Medical Genetics
Potts, Lisa F LF; Cambon, Alex C AC; Ross, Owen A OA; Rademakers, Rosa R; Dickson, Dennis W DW; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Rai, Shesh N SN; Farrer, Matthew J MJ; Hein, David W DW; Litvan, Irene I
Publication Date: 2012-03-17

Variant appearance in text: rs5030839
PubMed Link: 22424094
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent.

Biomarkers In Cancer
Kidd, La Creis Renee LC; Vancleave, Tiva T TT; Doll, Mark A MA; Srivastava, Daya S DS; Thacker, Brandon B; Komolafe, Oyeyemi O; Pihur, Vasyl V; Brock, Guy N GN; Hein, David W DW
Publication Date: 2011-02-03

Variant appearance in text: rs5030839
PubMed Link: 21709725
Variant Present in the following documents:
  • Main text
  • bic-3-2011-001.pdf
View BVdb publication page



A screening methodology based on Random Forests to improve the detection of gene-gene interactions.

European Journal Of Human Genetics : Ejhg
De Lobel, Lizzy L; Geurts, Pierre P; Baele, Guy G; Castro-Giner, Francesc F; Kogevinas, Manolis M; Van Steen, Kristel K
Publication Date: 2010-10

Variant appearance in text: rs5030839
PubMed Link: 20461113
Variant Present in the following documents:
  • Main text
View BVdb publication page



N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine.

Expert Opinion On Drug Metabolism & Toxicology
Hein, David W DW
Publication Date: 2009-04

Variant appearance in text: NAT1: R187X
PubMed Link: 19379125
Variant Present in the following documents:
  • Main text
View BVdb publication page