NAT2 c.609G>C ;(p.E203D)

Variant ID: 8-18258122-G-C

NM_000015.2(NAT2):c.609G>C;(p.E203D)

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: rs45618543
PubMed Link: 37023111
Variant Present in the following documents:
  • pone.0283726.s016.xlsx, 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: rs45618543
PubMed Link: 33384440
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80288.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: NAT2: E203D
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
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: rs45618543
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: rs45618543
PubMed Link: 26620671
Variant Present in the following documents:
  • 12862_2015_543_MOESM4_ESM.xlsx, sheet 1
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: E203D
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: E203D
PubMed Link: 18680467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.

Bmc Genetics
Sabbagh, Audrey A; Langaney, André A; Darlu, Pierre P; Gérard, Nathalie N; Krishnamoorthy, Rajagopal R; Poloni, Estella S ES
Publication Date: 2008-02-27

Variant appearance in text: NAT2: E203D
PubMed Link: 18304320
Variant Present in the following documents:
  • Main text
  • 1471-2156-9-21.pdf
View BVdb publication page