NAT2 c.282C>T ;(p.Y94=)

Variant ID: 8-18257795-C-T

NM_000015.2(NAT2):c.282C>T;(p.Y94=)

This variant was identified in 153 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: rs1041983
PubMed Link: 37023111
Variant Present in the following documents:
  • Main text
  • pone.0283726.s016.xlsx, sheet 1
  • pone.0283726.pdf
  • pone.0283726.s015.xlsx, sheet 1
View BVdb publication page



CYP2C19-rs4986893 confers risk to major depressive disorder and bipolar disorder in the Han Chinese population whereas ABCB1-rs1045642 acts as a protective factor.

Bmc Psychiatry
Zhang, Ting T; Rao, Qingmin Q; Lin, Kangguang K; He, Yongyin Y; Cai, Jintai J; Yang, Mengxin M; Xu, Ying Y; Hou, Le L; Lin, Yulong Y; Liu, Haiying H
Publication Date: 2023-01-25

Variant appearance in text: rs1041983
PubMed Link: 36698099
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_4514.pdf
View BVdb publication page



Quantitative Analysis of Isoniazid and Its Four Primary Metabolites in Plasma of Tuberculosis Patients Using LC-MS/MS.

Molecules (Basel, Switzerland)
Ky Anh, Nguyen N; My Tung, Pham P; Kim, Min Jung MJ; Phuoc Long, Nguyen N; Cho, Yong-Soon YS; Kim, Dong-Hyun DH; Shin, Jae-Gook JG
Publication Date: 2022-12-06

Variant appearance in text: NAT2: 282C>T
PubMed Link: 36500699
Variant Present in the following documents:
  • Main text
  • molecules-27-08607.pdf
View BVdb publication page



Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: NAT2: 282C>T; Tyr94=; rs1041983
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: NAT2: Y94Y
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: NAT2: Y94Y
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Influence of N-acetyltransferase 2 (NAT2) genotype/single nucleotide polymorphisms on clearance of isoniazid in tuberculosis patients: a systematic review of population pharmacokinetic models.

European Journal Of Clinical Pharmacology
Thomas, Levin L; Raju, Arun Prasath AP; Chaithra, ; M, Sonal Sekhar SS; Varma, Muralidhar M; Saravu, Kavitha K; Banerjee, Mithu M; Sv, Chidananda Sanju CS; Mallayasamy, Surulivelrajan S; Rao, Mahadev M
Publication Date: 2022-10

Variant appearance in text: NAT2: 282C>T; rs1041983
PubMed Link: 35852584
Variant Present in the following documents:
  • Main text
  • 228_2022_Article_3362.pdf
View BVdb publication page



Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology
Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2022

Variant appearance in text: NAT2: 282C>T; Tyr94=; rs1041983
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population.

Human Genomics
Akhlaghipour, Iman I; Bina, Amir Reza AR; Mogharrabi, Mohammad Reza MR; Fanoodi, Ali A; Ebrahimian, Amir Reza AR; Khojasteh Kaffash, Soroush S; Babazadeh Baghan, Atefeh A; Khorashadizadeh, Mohammad Erfan ME; Taghehchian, Negin N; Moghbeli, Meysam M
Publication Date: 2022-04-02

Variant appearance in text: rs1041983
PubMed Link: 35366956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China.

Pharmacogenomics And Personalized Medicine
Wang, Yuliang Y; Peng, Linna L; Lu, Hongyan H; Zhang, Zhanhao Z; Xing, Shishi S; Li, Dandan D; He, Chunjuan C; Jin, Tianbo T; Wang, Li L
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34949935
Variant Present in the following documents:
  • Main text
  • pgpm-14-1647.pdf
View BVdb publication page



Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China.

Bmc Genomic Data
Li, Dandan D; Peng, Linna L; Xing, Shishi S; He, Chunjuan C; Jin, Tianbo T
Publication Date: 2021-11-19

Variant appearance in text: rs1041983
PubMed Link: 34798807
Variant Present in the following documents:
  • Main text
  • 12863_2021_Article_999.pdf
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: NAT2: 282C>T; Y94Y; rs1041983
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.

Molecular Genetics & Genomic Medicine
Levano, Kelly S KS; Jaramillo-Valverde, Luis L; Tarazona, David D DD; Sanchez, Cesar C; Capristano, Silvia S; Vásquez-Loarte, Tania T; Solari, Lely L; Mendoza-Ticona, Alberto A; Soto, Alonso A; Rojas, Christian C; Zegarra-Chapoñan, Roberto R; Guio, Heinner H
Publication Date: 2021-10

Variant appearance in text: NAT2: 282C>T; Y94Y; rs1041983
PubMed Link: 34510815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.

Molecular Genetics & Genomic Medicine
Levano, Kelly S KS; Jaramillo-Valverde, Luis L; Tarazona, David D DD; Sanchez, Cesar C; Capristano, Silvia S; Vásquez-Loarte, Tania T; Solari, Lely L; Mendoza-Ticona, Alberto A; Soto, Alonso A; Rojas, Christian C; Zegarra-Chapoñan, Roberto R; Guio, Heinner H
Publication Date: 2021-10

Variant appearance in text: NAT2: 282C>T; Y94Y; rs1041983
PubMed Link: 34510815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels.

Risk Management And Healthcare Policy
Sirivarasai, Jintana J; Chanprasertyothin, Suwanee S; Kongtip, Pornpimol P; Woskie, Susan S
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34434063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population.

Pharmacogenomics And Personalized Medicine
He, Chunjuan C; Peng, Linna L; Xing, Shishi S; Li, Dandan D; Wang, Li L; Jin, Tianbo T
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34429635
Variant Present in the following documents:
  • Main text
  • pgpm-14-1027.pdf
View BVdb publication page



Association of Nucleotide Variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 Genes with Nonsyndromic Cleft Lip With/Without Cleft Palate in Multigenerational Families: A Retrospective Study.

Contemporary Clinical Dentistry
Neela, Praveen Kumar PK; Gosla, Srinivas Reddy SR; Husain, Akhter A; Mohan, Vasavi V; Thumoju, Sravya S; Rajeshwari, B V BV
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34220153
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acetylator Status Among Newly Diagnosed and Recurrent Tuberculosis Patients from Kupang, Eastern Part of Indonesia.

Pharmacogenomics And Personalized Medicine
Sahiratmadja, Edhyana E; Rini, Ika Agus IA; Penggoam, Simeon S; Charles, Afandi A; Maskoen, Ani Melani AM; Parwati, Ida I
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34188520
Variant Present in the following documents:
  • Main text
  • pgpm-14-737.pdf
View BVdb publication page



NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia.

The Application Of Clinical Genetics
Headriawan, Achmad A; Pramono, Alvinsyah Adhityo AA; Sukadi, Abdurachman A; Chairulfatah, Alex A; Maskoen, Ani Melani AM; Nataprawira, Heda Melinda HM
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 34113149
Variant Present in the following documents:
  • Main text
  • tacg-14-297.pdf
View BVdb publication page



Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules.

Network And Systems Medicine
Gillenwater, Lucas A LA; Pratte, Katherine A KA; Hobbs, Brian D BD; Cho, Michael H MH; Zhuang, Yonghua Y; Halper-Stromberg, Eitan E; Cruickshank-Quinn, Charmion C; Reisdorph, Nichole N; Petrache, Irina I; Labaki, Wassim W WW; O'Neal, Wanda K WK; Ortega, Victor E VE; Jones, Dean P DP; Uppal, Karan K; Jacobson, Sean S; Michelotti, Gregory G; Wendt, Christine H CH; Kechris, Katerina J KJ; Bowler, Russell P RP
Publication Date: 2020-12-01

Variant appearance in text: rs1041983
PubMed Link: 33987620
Variant Present in the following documents:
  • Main text
  • nsm.2020.0009.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: NAT2: Tyr94Tyr; rs1041983
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Association of NAT2 genetic polymorphism with the efficacy of Neurotropin® for the enhancement of aggrecan gene expression in nucleus pulposus cells: a pilot study.

Bmc Medical Genomics
Nakai, Tomoko T; Sakai, Daisuke D; Nakamura, Yoshihiko Y; Horikita, Natsumi N; Matsushita, Erika E; Naiki, Mitsuru M; Watanabe, Masahiko M
Publication Date: 2021-03-11

Variant appearance in text: rs1041983
PubMed Link: 33706752
Variant Present in the following documents:
  • 12920_2021_Article_926.pdf
View BVdb publication page



Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.

Pharmacogenomics And Personalized Medicine
Fernandes, Marianne Rodrigues MR; Rodrigues, Juliana Carla Gomes JCG; Maroñas, Olalla O; Latorre-Pellicer, Ana A; Cruz, Raquel R; Guerreiro, João Farias JF; Burbano, Rommel Mario Rodriguez RMR; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Andrea A; Dos Santos, Sidney Emanuel Batista SEB; Carracedo, Angel A; Dos Santos, Ney Pereira Carneiro NPC
Publication Date: 2021

Variant appearance in text: rs1041983
PubMed Link: 33519226
Variant Present in the following documents:
  • Main text
  • pgpm-14-117.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs1041983
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, 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: NAT2: Y94Y; rs1041983
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population.

African Journal Of Laboratory Medicine
Swart, Celeste C; Meldau, Surita S; Centner, Chad M CM; Marais, Adrian D AD; Omar, Fierdoz F
Publication Date: 2020

Variant appearance in text: NAT2: 282C>T; Y94Y
PubMed Link: 33392048
Variant Present in the following documents:
  • Main text
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: rs1041983
PubMed Link: 33384440
Variant Present in the following documents:
  • Main text
  • 41598_2020_80288_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports
Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR
Publication Date: 2020-12-04

Variant appearance in text: rs1041983
PubMed Link: 33277594
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78231.pdf
  • 41598_2020_78231_MOESM1_ESM.pdf
View BVdb publication page



Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation.

Scientific Reports
Mauleekoonphairoj, John J; Chamnanphon, Monpat M; Khongphatthanayothin, Apichai A; Sutjaporn, Boosamas B; Wandee, Pharawee P; Poovorawan, Yong Y; Nademanee, Koonlawee K; Pongpanich, Monnat M; Chariyavilaskul, Pajaree P
Publication Date: 2020-11-03

Variant appearance in text: NAT2: 282C>T; rs1041983
PubMed Link: 33144648
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_76085.pdf
View BVdb publication page



Arylamine N-acetyltransferase acetylation polymorphisms: paradigm for pharmacogenomic-guided therapy- a focused review.

Expert Opinion On Drug Metabolism & Toxicology
Hein, David W DW; Millner, Lori M LM
Publication Date: 2021-01

Variant appearance in text: NAT2: Y94Y; rs1041983
PubMed Link: 33094670
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-Environment Interaction Analysis of NQO1, CYP2E1, and NAT2 Polymorphisms and the Risk of Childhood Acute Lymphoblastic Leukemia: A Report From the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia.

Frontiers In Oncology
Medina-Sanson, Aurora A; Núñez-Enríquez, Juan Carlos JC; Hurtado-Cordova, Eduardo E; Pérez-Saldivar, María Luisa ML; Martínez-García, Anayeli A; Jiménez-Hernández, Elva E; Fernández-López, Juan Carlos JC; Martín-Trejo, Jorge Alfonso JA; Pérez-Lorenzana, Héctor H; Flores-Lujano, Janet J; Amador-Sánchez, Raquel R; Mora-Ríos, Felix Gustavo FG; Peñaloza-González, José Gabriel JG; Duarte-Rodríguez, David Aldebarán DA; Torres-Nava, José Refugio JR; Flores-Bautista, Juan Eduardo JE; Espinosa-Elizondo, Rosa Martha RM; Román-Zepeda, Pedro Francisco PF; Flores-Villegas, Luz Victoria LV; González-Ulivarri, Juana Esther JE; Martínez-Silva, Sofía Irene SI; Espinoza-Anrubio, Gilberto G; Almeida-Hernández, Carolina C; Ramírez-Colorado, Rosario R; Hernández-Mora, Luis L; García-López, Luis Ramiro LR; Cruz-Ojeda, Gabriela Adriana GA; Godoy-Esquivel, Arturo Emilio AE; Contreras-Hernández, Iris I; Medina-Hernández, Abraham A; López-Caballero, María Guadalupe MG; Hernández-Pineda, Norma Angélica NA; Granados-Kraulles, Jorge J; Rodríguez-Vázquez, María Adriana MA; Torres-Valle, Delfino D; Cortés-Reyes, Carlos C; Medrano-López, Francisco F; Pérez-Gómez, Jessica Arleet JA; Martínez-Ríos, Annel A; Aguilar-De Los Santos, Antonio A; Serafin-Díaz, Berenice B; Bekker-Méndez, Vilma Carolina VC; Mata-Rocha, Minerva M; Morales-Castillo, Blanca Angélica BA; Sepúlveda-Robles, Omar Alejandro OA; Ramírez-Bello, Julián J; Rosas-Vargas, Haydeé H; Hidalgo-Miranda, Alfredo A; Mejía-Aranguré, Juan Manuel JM; Jiménez-Morales, Silvia S
Publication Date: 2020

Variant appearance in text: rs1041983
PubMed Link: 33072605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics of Type 2 Diabetes-Progress and Prospects.

International Journal Of Molecular Sciences
Nasykhova, Yulia A YA; Tonyan, Ziravard N ZN; Mikhailova, Anastasiia A AA; Danilova, Maria M MM; Glotov, Andrey S AS
Publication Date: 2020-09-18

Variant appearance in text: NAT2: Tyr94Tyr; rs1041983
PubMed Link: 32961860
Variant Present in the following documents:
  • Main text
  • ijms-21-06842.pdf
View BVdb publication page



Genotype-Guided Hydralazine Therapy.

American Journal Of Nephrology
Collins, Kimberly S KS; Raviele, Anthony L J ALJ; Elchynski, Amanda L AL; Woodcock, Alexander M AM; Zhao, Yang Y; Cooper-DeHoff, Rhonda M RM; Eadon, Michael T MT
Publication Date: 2020

Variant appearance in text: rs1041983
PubMed Link: 32927458
Variant Present in the following documents:
  • Main text
View BVdb publication page



Study on Genotyping Polymorphism and Sequencing of N-Acetyltransferase 2 (NAT2) among Al-Ahsa Population.

Biomed Research International
Zahra, Mohammad Abu MA; Kandeel, Mahmoud M; Aldossary, Sara A SA; Al-Taher, Abdulla A
Publication Date: 2020

Variant appearance in text: NAT2: Tyr94Tyr; rs1041983
PubMed Link: 32626768
Variant Present in the following documents:
  • Main text
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: NAT2: 282C>T; Y94Y; rs1041983
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Unexpected Acetylation of Endogenous Aliphatic Amines by Arylamine N-Acetyltransferase NAT2.

Angewandte Chemie (International Ed. In English)
Conway, Louis P LP; Rendo, Veronica V; Correia, Mário S P MSP; Bergdahl, Ingvar A IA; Sjöblom, Tobias T; Globisch, Daniel D
Publication Date: 2020-08-17

Variant appearance in text: rs1041983
PubMed Link: 32497306
Variant Present in the following documents:
  • ANIE-59-14342-s001.pdf
View BVdb publication page



Modulatory Role of Single Nucleotide Polymorphisms of Distinct Genetic Pathways on Clinical Behavior of Medullary Thyroid Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R
Publication Date: 2020-05-01

Variant appearance in text: NAT2: Y94Y; rs1041983
PubMed Link: 32458635
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype-specific PCR for NAT2 diplotyping.

Human Genome Variation
Wichukchinda, Nuanjun N; Pakdee, Jirapa J; Kunhapan, Punna P; Imunchot, Wimala W; Toyo-Oka, Licht L; Tokunaga, Katsushi K; Mahasirimongkol, Surakameth S
Publication Date: 2020

Variant appearance in text: rs1041983
PubMed Link: 32411379
Variant Present in the following documents:
  • Main text
  • 41439_2020_Article_101.pdf
View BVdb publication page



The association between NAT2 acetylator status and adverse drug reactions of sulfasalazine: a systematic review and meta-analysis.

Scientific Reports
Yee, Jeong J; Kim, So Min SM; Han, Ji Min JM; Lee, Nari N; Yoon, Ha Young HY; Gwak, Hye Sun HS
Publication Date: 2020-02-27

Variant appearance in text: rs1041983
PubMed Link: 32107440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: NAT2: 282C>T; Y94Y; rs1041983
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One
Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA
Publication Date: 2020

Variant appearance in text: rs1041983
PubMed Link: 31971968
Variant Present in the following documents:
  • Main text
  • pone.0228000.pdf
View BVdb publication page



Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico.

Frontiers In Pharmacology
Gonzalez-Covarrubias, Vanessa V; Morales-Franco, Marlet M; Cruz-Correa, Omar F OF; Martínez-Hernández, Angélica A; García-Ortíz, Humberto H; Barajas-Olmos, Francisco F; Genis-Mendoza, Alma Delia AD; Martínez-Magaña, José Jaime JJ; Nicolini, Humberto H; Orozco, Lorena L; Soberón, Xavier X
Publication Date: 2019

Variant appearance in text: rs1041983
PubMed Link: 31649539
Variant Present in the following documents:
  • Main text
  • fphar-10-01169.pdf
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs1041983
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Medicine
Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R
Publication Date: 2019-10

Variant appearance in text: NAT2: Y94Y; rs1041983
PubMed Link: 31408923
Variant Present in the following documents:
  • CAM4-8-6151.pdf
View BVdb publication page