NAT1 c.781G>A ;(p.E261K)

Variant ID: 8-18080337-G-A

NM_000662.5(NAT1):c.781G>A;(p.E261K)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature Genetics
Körber, Verena V; Stainczyk, Sabine A SA; Kurilov, Roma R; Henrich, Kai-Oliver KO; Hero, Barbara B; Brors, Benedikt B; Westermann, Frank F; Höfer, Thomas T
Publication Date: 2023-03-27

Variant appearance in text: NAT1: E261K; rs72554610
PubMed Link: 36973454
Variant Present in the following documents:
  • 41588_2023_1332_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



560G>A (rs4986782) (R187Q) Single Nucleotide Polymorphism in Arylamine N-Acetyltransferase 1 Increases Affinity for the Aromatic Amine Carcinogens 4-Aminobiphenyl and N-Hydroxy-4-Aminobiphenyl: Implications for Cancer Risk Assessment.

Frontiers In Pharmacology
Doll, Mark A MA; Hein, David W DW
Publication Date: 2022

Variant appearance in text: NAT1: E261K; rs72554610
PubMed Link: 35273499
Variant Present in the following documents:
  • Main text
  • fphar-13-820082.pdf
View BVdb publication page



Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome.

Nature Communications
Hartlieb, Sabine A SA; Sieverling, Lina L; Nadler-Holly, Michal M; Ziehm, Matthias M; Toprak, Umut H UH; Herrmann, Carl C; Ishaque, Naveed N; Okonechnikov, Konstantin K; Gartlgruber, Moritz M; Park, Young-Gyu YG; Wecht, Elisa Maria EM; Savelyeva, Larissa L; Henrich, Kai-Oliver KO; Rosswog, Carolina C; Fischer, Matthias M; Hero, Barbara B; Jones, David T W DTW; Pfaff, Elke E; Witt, Olaf O; Pfister, Stefan M SM; Volckmann, Richard R; Koster, Jan J; Kiesel, Katharina K; Rippe, Karsten K; Taschner-Mandl, Sabine S; Ambros, Peter P; Brors, Benedikt B; Selbach, Matthias M; Feuerbach, Lars L; Westermann, Frank F
Publication Date: 2021-02-24

Variant appearance in text: rs72554610
PubMed Link: 33627664
Variant Present in the following documents:
  • 41467_2021_21247_MOESM10_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: NAT1: E261K; rs72554610
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: NAT1: E261K; rs72554610
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: NAT1: E261K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Arylamine N-acetyltransferases: a structural perspective.

British Journal Of Pharmacology
Zhou, Xiaotong X; Ma, Zhiguo Z; Dong, Dong D; Wu, Baojian B
Publication Date: 2013-06

Variant appearance in text: NAT1: E261K
PubMed Link: 23517104
Variant Present in the following documents:
  • Main text
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: NAT1: E261K
PubMed Link: 19379125
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-function analyses of single nucleotide polymorphisms in human N-acetyltransferase 1.

Drug Metabolism Reviews
Walraven, Jason M JM; Trent, John O JO; Hein, David W DW
Publication Date: 2008

Variant appearance in text: NAT1: E261K
PubMed Link: 18259988
Variant Present in the following documents:
  • Main text
View BVdb publication page