NAT1 c.777T>G ;(p.S259R)

Variant ID: 8-18080333-T-G

NM_000662.5(NAT1):c.777T>G;(p.S259R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27

Variant appearance in text: NAT1: S259R; rs4986991
PubMed Link: 35687490
Variant Present in the following documents:
  • advancesADV2021006654-suppl4.xlsx, sheet 6
  • advancesADV2021006654-suppl12.xlsx, sheet 1
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: NAT1: S259R; rs4986991
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: NAT1: S259R; rs4986991
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
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: rs4986991
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: rs4986991
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.

Nucleic Acids Research
Till, Bradley J BJ; Zerr, Troy T; Bowers, Elisabeth E; Greene, Elizabeth A EA; Comai, Luca L; Henikoff, Steven S
Publication Date: 2006-08-07

Variant appearance in text: NAT1: S259R
PubMed Link: 16893952
Variant Present in the following documents:
  • Main text
  • gkl479.pdf
View BVdb publication page



Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

American Journal Of Human Genetics
Patin, Etienne E; Barreiro, Luis B LB; Sabeti, Pardis C PC; Austerlitz, Frédéric F; Luca, Francesca F; Sajantila, Antti A; Behar, Doron M DM; Semino, Ornella O; Sakuntabhai, Anavaj A; Guiso, Nicole N; Gicquel, Brigitte B; McElreavey, Ken K; Harding, Rosalind M RM; Heyer, Evelyne E; Quintana-Murci, Lluis L
Publication Date: 2006-03

Variant appearance in text: rs4986991
PubMed Link: 16416399
Variant Present in the following documents:
  • Main text
View BVdb publication page