NAT2 c.70T>A ;(p.L24I)

Variant ID: 8-18257583-T-A

NM_000015.2(NAT2):c.70T>A;(p.L24I)

This variant was identified in 11 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: rs45477599
PubMed Link: 37023111
Variant Present in the following documents:
  • pone.0283726.s016.xlsx, sheet 1
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: NAT2: 70T>A; L24I
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.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: rs45477599
PubMed Link: 33384440
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80288.pdf
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: rs45477599
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: rs45477599
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: NAT2: L24I
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
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: rs45477599
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: L24I
PubMed Link: 26620671
Variant Present in the following documents:
  • 12862_2015_543_MOESM3_ESM.pdf
  • 12862_2015_543_MOESM4_ESM.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: L24I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: L24I
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: L24I
PubMed Link: 18680467
Variant Present in the following documents:
  • Main text
View BVdb publication page