NAT2 c.364G>A ;(p.D122N)

Variant ID: 8-18257877-G-A

NM_000015.2(NAT2):c.364G>A;(p.D122N)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


miR-15a-3p Protects Against Isoniazid-Induced Liver Injury via Suppressing N-Acetyltransferase 2 Expression.

Frontiers In Molecular Biosciences
Li, Xinmei X; Zhang, Heng H; Xu, Lin L; Jin, Yuan Y; Luo, Jiao J; Li, Chuanhai C; Zhao, Kunming K; Zheng, Yuxin Y; Yu, Dianke D; Zhao, Yanjie Y
Publication Date: 2021

Variant appearance in text: NAT2: D122N
PubMed Link: 34888351
Variant Present in the following documents:
  • Main text
  • fmolb-08-752072.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: NAT2: 364G>A; D122N; rs4986996
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
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: D122N; rs4986996
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: 364G>A; D122N; rs4986996
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.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: D122N; rs4986996
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
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: rs4986996
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: rs4986996
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4986996
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NAT2: D122N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: rs4986996
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: rs4986996
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: rs4986996
PubMed Link: 24944790
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: D122N
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: D122N
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: D122N; rs4986996
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: rs4986996
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
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: D122N
PubMed Link: 17434923
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Pharmacogenetics And Genomics
Zang, Yu Y; Zhao, Shuang S; Doll, Mark A MA; States, J Christopher JC; Hein, David W DW
Publication Date: 2007-01

Variant appearance in text: NAT2: D122N
PubMed Link: 17264801
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Oncogene
Hein, D W DW
Publication Date: 2006-03-13

Variant appearance in text: NAT2: D122N
PubMed Link: 16550165
Variant Present in the following documents:
  • Main text
View BVdb publication page