NAT1 c.*318T>G

Variant ID: 8-18080747-T-G

NM_000662.5(NAT1):c.*318T>G

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4986993
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs4986993
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs4986993
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs4986993
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Prediction of Nephrotoxicity Associated With Cisplatin-Based Chemotherapy in Testicular Cancer Patients.

Jnci Cancer Spectrum
Garcia, Sara L SL; Lauritsen, Jakob J; Zhang, Zeyu Z; Bandak, Mikkel M; Dalgaard, Marlene D MD; Nielsen, Rikke L RL; Daugaard, Gedske G; Gupta, Ramneek R
Publication Date: 2020-06

Variant appearance in text: rs4986993
PubMed Link: 32617516
Variant Present in the following documents:
  • Main text
  • pkaa032.pdf
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: rs4986993
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4986993
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs4986993
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



A Novel Multiplex HRM Assay to Detect Clopidogrel Resistance.

Scientific Reports
Zhang, Lichen L; Ma, Xiaowei X; You, Guoling G; Zhang, Xiaoqing X; Fu, Qihua Q
Publication Date: 2017-11-22

Variant appearance in text: rs4986993
PubMed Link: 29167499
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16310.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs4986993
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: rs4986993
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: rs4986993
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Common genetic variants in metabolism and detoxification pathways and the risk of papillary thyroid cancer.

Endocrine-Related Cancer
Aschebrook-Kilfoy, Briseis B; Neta, Gila G; Brenner, Alina V AV; Hutchinson, Amy A; Pfeiffer, Ruth M RM; Sturgis, Erich M EM; Xu, Li L; Wheeler, William W; Doody, Michele M MM; Chanock, Stephen J SJ; Sigurdson, Alice J AJ
Publication Date: 2012-06

Variant appearance in text: rs4986993
PubMed Link: 22389382
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of arylamine N-acetyltransferase 1 (NAT1) NAT1*10 haplotypes in a complete NATb mRNA construct.

Carcinogenesis
Millner, Lori M LM; Doll, Mark A MA; Stepp, Marcus W MW; States, J Christopher JC; Hein, David W DW
Publication Date: 2012-02

Variant appearance in text: rs4986993
PubMed Link: 22114069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity.

Pharmacogenetics And Genomics
Wang, Danxin D; Para, Michael F MF; Koletar, Susan L SL; Sadee, Wolfgang W
Publication Date: 2011-10

Variant appearance in text: rs4986993
PubMed Link: 21878835
Variant Present in the following documents:
  • Main text
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: rs4986993
PubMed Link: 16416399
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of electron-beam irradiation on buccal-cell DNA.

American Journal Of Human Genetics
Castle, Philip E PE; Garcia-Closas, Montserrat M; Franklin, Tracie T; Chanock, Stephen S; Puri, Vinita V; Welch, Robert R; Rothman, Nathaniel N; Vaught, Jim J
Publication Date: 2003-09

Variant appearance in text: rs4986993
PubMed Link: 12917795
Variant Present in the following documents:
  • Main text
View BVdb publication page