NAT2 c.499G>A ;(p.E167K)

Variant ID: 8-18258012-G-A

NM_000015.2(NAT2):c.499G>A;(p.E167K)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


NAT2 global landscape: Genetic diversity and acetylation statuses from a systematic review.

Plos One
Gutiérrez-Virgen, Jorge E JE; Piña-Pozas, Maricela M; Hernández-Tobías, Esther A EA; Taja-Chayeb, Lucia L; López-González, Ma de Lourdes ML; Meraz-Ríos, Marco A MA; Gómez, Rocío R
Publication Date: 2023

Variant appearance in text: rs72554617
PubMed Link: 37023111
Variant Present in the following documents:
  • pone.0283726.s016.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NAT2: E167K
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: NAT2: 499G>A; E167K; rs72554617
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.

Scientific Reports
Rendo, Veronica V; Kundu, Snehangshu S; Rameika, Natallia N; Ljungström, Viktor V; Svensson, Richard R; Palin, Kimmo K; Aaltonen, Lauri L; Stoimenov, Ivaylo I; Sjöblom, Tobias T
Publication Date: 2020-12-31

Variant appearance in text: rs72554617
PubMed Link: 33384440
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80288.pdf
View BVdb publication page



Arylamine N-acetyltransferase acetylation polymorphisms: paradigm for pharmacogenomic-guided therapy- a focused review.

Expert Opinion On Drug Metabolism & Toxicology
Hein, David W DW; Millner, Lori M LM
Publication Date: 2021-01

Variant appearance in text: NAT2: E167K; rs72554617
PubMed Link: 33094670
Variant Present in the following documents:
  • Main text
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: NAT2: 499G>A; E167K; rs72554617
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Frontiers In Genetics
Sun, Yixi Y; Li, Yanfeng Y; Chen, Min M; Luo, Yuqin Y; Qian, Yeqing Y; Yang, Yanmei Y; Lu, Hong H; Lou, Fenlan F; Dong, Minyue M
Publication Date: 2019

Variant appearance in text: NAT2: 499G>A; E167K; rs72554617
PubMed Link: 31572438
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



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

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: NAT2: E167K; rs72554617
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_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: rs72554617
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NAT2: 499G>A; E167K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: rs72554617
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: rs72554617
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: NAT2: E167K; rs72554617
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



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

British Journal Of Pharmacology
Sim, E E; Abuhammad, A A; Ryan, A A
Publication Date: 2014-06

Variant appearance in text: NAT2: Glu167Lys
PubMed Link: 24467436
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics of drug metabolizing enzymes and transporters: implications for cancer therapy.

Pharmacogenomics And Personalized Medicine
Li, Jing J; Bluth, Martin H MH
Publication Date: 2011

Variant appearance in text: NAT2: E167K
PubMed Link: 23226051
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Plos One
Rajasekaran, M M; Abirami, Santhanam S; Chen, Chinpan C
Publication Date: 2011

Variant appearance in text: NAT2: E167K
PubMed Link: 21980537
Variant Present in the following documents:
  • Main text
  • pone.0025801.pdf
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: NAT2: E167K
PubMed Link: 19379125
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Current Drug Metabolism
Walraven, Jason M JM; Zang, Yu Y; Trent, John O JO; Hein, David W DW
Publication Date: 2008-07

Variant appearance in text: NAT2: E167K
PubMed Link: 18680467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: NAT2: E167K
PubMed Link: 18547414
Variant Present in the following documents:
  • Main text
  • 1755-8794-1-24.pdf
View BVdb publication page



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

Carcinogenesis
Zang, Yu Y; Doll, Mark A MA; Zhao, Shuang S; States, J Christopher JC; Hein, David W DW
Publication Date: 2007-08

Variant appearance in text: NAT2: E167K
PubMed Link: 17434923
Variant Present in the following documents:
  • Main text
View BVdb publication page