NAT2 c.472A>C ;(p.I158L)

Variant ID: 8-18257985-A-C

NM_000015.2(NAT2):c.472A>C;(p.I158L)

This variant was identified in 8 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: rs139351995
PubMed Link: 37023111
Variant Present in the following documents:
  • pone.0283726.s016.xlsx, sheet 1
View BVdb publication page



Homozygotes NAT2*5B slow acetylators are highly associated with hepatotoxicity induced by anti-tuberculosis drugs.

Memorias Do Instituto Oswaldo Cruz
El-Jaick, Kenia Balbi KB; Ribeiro-Alves, Marcelo M; Soares, Marcos Vinícius Guimarães MVG; Araujo, Gabriela Eduardo França de GEF; Pereira, Gabriel Rodrigues Coutinho GRC; Rolla, Valeria Cavalcanti VC; Mesquita, Joelma Freire De JF; De Castro, Liane L
Publication Date: 2022

Variant appearance in text: NAT2: 472A>C; rs139351995
PubMed Link: 35588539
Variant Present in the following documents:
  • Main text
  • 1678-8060-mioc-117-e210328.pdf
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: rs139351995
PubMed Link: 33384440
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80288.pdf
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: rs139351995
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: NAT2: 472A>C; I158L; rs139351995
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa.

Bmc Evolutionary Biology
Podgorná, Eliška E; Diallo, Issa I; Vangenot, Christelle C; Sanchez-Mazas, Alicia A; Sabbagh, Audrey A; Černý, Viktor V; Poloni, Estella S ES
Publication Date: 2015-12-01

Variant appearance in text: NAT2: I158L
PubMed Link: 26620671
Variant Present in the following documents:
  • 12862_2015_543_MOESM4_ESM.xlsx, sheet 1
  • 12862_2015_543_MOESM3_ESM.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: I158L
PubMed Link: 19379125
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics
Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C
Publication Date: 2009-01

Variant appearance in text: NAT2: I158L
PubMed Link: 19164093
Variant Present in the following documents:
  • Main text
  • 1479-7364-3-2-169.pdf
View BVdb publication page