CYP2A6 c.493+23G>T

Variant ID: 19-41354496-C-A

NM_000762.5(CYP2A6):c.493+23G>T

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine
Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y
Publication Date: 2022-12

Variant appearance in text: rs8192726
PubMed Link: 36453946
Variant Present in the following documents:
  • Main text
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: rs8192726
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Predicting nicotine metabolism across ancestries using genotypes.

Bmc Genomics
Baurley, James W JW; Bergen, Andrew W AW; Ervin, Carolyn M CM; Park, Sung-Shim Lani SL; Murphy, Sharon E SE; McMahan, Christopher S CS
Publication Date: 2022-09-21

Variant appearance in text: rs8192726
PubMed Link: 36131240
Variant Present in the following documents:
  • Main text
  • 12864_2022_Article_8884.pdf
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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: rs8192726
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
  • fphar-13-931531.pdf
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: rs8192726
PubMed Link: 34949935
Variant Present in the following documents:
  • Main text
  • pgpm-14-1647.pdf
View BVdb publication page



Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J
Publication Date: 2022-02

Variant appearance in text: rs8192726
PubMed Link: 34862210
Variant Present in the following documents:
  • Main text
  • 268527_2_supp_7525223_r2sknd.pdf
  • 352.pdf
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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: rs8192726
PubMed Link: 34798807
Variant Present in the following documents:
  • Main text
  • 12863_2021_Article_999.pdf
View BVdb publication page



Analysis of Very Important Pharmacogenomics Variants in the Chinese Lahu Population.

Pharmacogenomics And Personalized Medicine
Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Ding, Heng H; Chen, Wanlu W; Dai, Run R; Zhang, Chan C
Publication Date: 2021

Variant appearance in text: rs8192726
PubMed Link: 34629888
Variant Present in the following documents:
  • Main text
  • pgpm-14-1275.pdf
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: rs8192726
PubMed Link: 34429635
Variant Present in the following documents:
  • Main text
  • pgpm-14-1027.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CYP2A6: 493+23G>T; rs8192726
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine
Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC
Publication Date: 2021-07

Variant appearance in text: rs8192726
PubMed Link: 34050721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine
Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC
Publication Date: 2021-07

Variant appearance in text: rs8192726
PubMed Link: 34050721
Variant Present in the following documents:
  • Main text
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: rs8192726
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Smoking and heart failure: a Mendelian randomization and mediation analysis.

Esc Heart Failure
Lu, Yunlong Y; Xu, Zhouming Z; Georgakis, Marios K MK; Wang, Zhen Z; Lin, Hefeng H; Zheng, Liangrong L
Publication Date: 2021-06

Variant appearance in text: rs8192726
PubMed Link: 33656795
Variant Present in the following documents:
  • EHF2-8-1954-s001.pdf
View BVdb publication page



Polymorphisms of xenobiotic-metabolizing and transporter genes, and the risk of gastric and colorectal cancer in an admixed population from the Brazilian Amazon.

American Journal Of Translational Research
de Castro, Amanda Nazaré Cohen Lima ANCL; Fernandes, Marianne Rodrigues MR; de Carvalho, Darlen Cardoso DC; de Souza, Tatiane Piedade TP; Rodrigues, Juliana Carla Gomes JCG; Andrade, Roberta Borges RB; Modesto, Antonio Andre Conde AAC; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Dos Santos, Ney Pereira Carneiro NPC
Publication Date: 2020

Variant appearance in text: rs8192726
PubMed Link: 33194059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Molecular Genetics & Genomic Medicine
Cheng, Yujing Y; Dai, Run R; Chen, Wanlu W; Li, Qi Q; Zhang, Chan C; Yang, Tonghua T
Publication Date: 2020-07

Variant appearance in text: rs8192726
PubMed Link: 32347657
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine
Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N
Publication Date: 2020-03

Variant appearance in text: rs8192726
PubMed Link: 32125935
Variant Present in the following documents:
  • NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 9
View BVdb publication page



Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.

International Journal Of Clinical And Experimental Pathology
Xia, Ridong R; Zhu, Xikai X; Chen, Zhengshuai Z; He, Yongjun Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T; Wang, Li L
Publication Date: 2018

Variant appearance in text: rs8192726
PubMed Link: 31949579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Molecular Genetics & Genomic Medicine
Chen, Wanlu W; Ding, Heng H; Cheng, Yujing Y; Li, Qi Q; Dai, Run R; Yang, Xin X; Zhang, Chan C
Publication Date: 2019-09

Variant appearance in text: rs8192726
PubMed Link: 31361092
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pharmacokinetic and pharmacogenetic evaluation of contraceptive implants and antiretroviral therapy among women in Kenya and Uganda.

Aids (London, England)
Patel, Rena C RC; Stalter, Randy M RM; Thomas, Katherine K KK; Tamraz, Bani B; Blue, Steven W SW; Erikson, David W DW; Kim, Christina J CJ; Kelly, Edward J EJ; Nanda, Kavita K; Kourtis, Athena P AP; Lingappa, Jairam R JR; Mugo, Nelly N; Baeten, Jared M JM; Scarsi, Kimberly K KK; ,
Publication Date: 2019-11-01

Variant appearance in text: rs8192726
PubMed Link: 31306173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of ADME-related genes and their implications for drug safety and efficacy in Amazonian Amerindians.

Scientific Reports
Rodrigues, Juliana Carla Gomes JCG; Fernandes, Marianne Rodrigues MR; Guerreiro, João Farias JF; da Silva, Artur Luiz da Costa ALDC; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney S; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2019-05-10

Variant appearance in text: rs8192726
PubMed Link: 31076604
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_43610.pdf
View BVdb publication page



Population genetic difference of pharmacogenomic VIP gene variants in the Lisu population from Yunnan Province.

Medicine
Zhang, Chan C; Jiang, Xiaochun X; Chen, Wanlu W; Li, Qi Q; Yun, Fubin F; Yang, Xin X; Dai, Run R; Cheng, Yujing Y
Publication Date: 2018-12

Variant appearance in text: rs8192726
PubMed Link: 30593137
Variant Present in the following documents:
  • medi-97-e13674.pdf
View BVdb publication page



Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases
Coelho, Antonio V C AVC; Moura, Ronald R de RR; Guimarães, Rafael L RL; Brandão, Lucas A C LAC; Crovella, Sergio S
Publication Date: 2018

Variant appearance in text: rs8192726
PubMed Link: 30392849
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: CYP2A6: 493+23G>T; rs8192726
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.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: rs8192726
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Polymorphisms in cytochrome P450 are associated with extensive efavirenz pharmacokinetics and CNS toxicities in an HIV cohort in Botswana.

The Pharmacogenomics Journal
Vujkovic, Marijana M; Bellamy, Scarlett L SL; Zuppa, Athena F AF; Gastonguay, Marc R MR; Moorthy, Ganesh S GS; Ratshaa, Bakgaki B; Han, Xiaoyan X; Steenhoff, Andrew P AP; Mosepele, Mosepele M; Strom, Brian L BL; Bisson, Gregory P GP; Aplenc, Richard R; Gross, Robert R
Publication Date: 2018-09

Variant appearance in text: rs8192726
PubMed Link: 29855606
Variant Present in the following documents:
  • Main text
  • nihms959883.pdf
View BVdb publication page



Prenatal exposure to drinking-water chlorination by-products, cytochrome P450 gene polymorphisms and small-for-gestational-age neonates.

Reproductive Toxicology (Elmsford, N.Y.)
Bonou, Samuella G SG; Levallois, Patrick P; Giguère, Yves Y; Rodriguez, Manuel M; Bureau, Alexandre A
Publication Date: 2017-10

Variant appearance in text: rs8192726
PubMed Link: 28774688
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Effect of Gene Variants on Levonorgestrel Pharmacokinetics When Combined With Antiretroviral Therapy Containing Efavirenz or Nevirapine.

Clinical Pharmacology And Therapeutics
Neary, M M; Lamorde, M M; Olagunju, A A; Darin, K M KM; Merry, C C; Byakika-Kibwika, P P; Back, D J DJ; Siccardi, M M; Owen, A A; Scarsi, K K KK
Publication Date: 2017-09

Variant appearance in text: rs8192726
PubMed Link: 28187506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population Pharmacokinetic Modeling To Estimate the Contributions of Genetic and Nongenetic Factors to Efavirenz Disposition.

Antimicrobial Agents And Chemotherapy
Robarge, Jason D JD; Metzger, Ingrid F IF; Lu, Jessica J; Thong, Nancy N; Skaar, Todd C TC; Desta, Zeruesenay Z; Bies, Robert R RR
Publication Date: 2017-01

Variant appearance in text: rs8192726
PubMed Link: 27799204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600 mg in Treatment-Naïve HIV-Infected Patients at 96 Weeks: Results of the ENCORE1 Study.

Clinical Pharmacokinetics
Dickinson, Laura L; Amin, Janaki J; Else, Laura L; Boffito, Marta M; Egan, Deirdre D; Owen, Andrew A; Khoo, Saye S; Back, David D; Orrell, Catherine C; Clarke, Amanda A; Losso, Marcelo M; Phanuphak, Praphan P; Carey, Dianne D; Cooper, David A DA; Emery, Sean S; Puls, Rebekah R
Publication Date: 2016-07

Variant appearance in text: rs8192726
PubMed Link: 26715213
Variant Present in the following documents:
  • Main text
  • 40262_2015_Article_360.pdf
View BVdb publication page



Pharmacokinetic and Pharmacodynamic Comparison of Once-Daily Efavirenz (400 mg vs. 600 mg) in Treatment-Naïve HIV-Infected Patients: Results of the ENCORE1 Study.

Clinical Pharmacology And Therapeutics
Dickinson, L L; Amin, J J; Else, L L; Boffito, M M; Egan, D D; Owen, A A; Khoo, S S; Back, D D; Orrell, C C; Clarke, A A; Losso, M M; Phanuphak, P P; Carey, D D; Cooper, D A DA; Emery, S S; Puls, R R; ,
Publication Date: 2015-10

Variant appearance in text: rs8192726
PubMed Link: 26044067
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB summary: Efavirenz pathway, pharmacokinetics.

Pharmacogenetics And Genomics
McDonagh, Ellen M EM; Lau, Johnathan L JL; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2015-07

Variant appearance in text: CYP2A6: 493+23G>T; rs8192726
PubMed Link: 25966836
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2B6*6, CYP2B6*18, Body weight and sex are predictors of efavirenz pharmacokinetics and treatment response: population pharmacokinetic modeling in an HIV/AIDS and TB cohort in Zimbabwe.

Bmc Pharmacology & Toxicology
Dhoro, Milcah M; Zvada, Simbarashe S; Ngara, Bernard B; Nhachi, Charles C; Kadzirange, Gerald G; Chonzi, Prosper P; Masimirembwa, Collen C
Publication Date: 2015-03-27

Variant appearance in text: rs8192726
PubMed Link: 25889207
Variant Present in the following documents:
  • Main text
  • 40360_2015_Article_4.pdf
View BVdb publication page



PharmGKB summary: very important pharmacogene information for cytochrome P-450, family 2, subfamily A, polypeptide 6.

Pharmacogenetics And Genomics
McDonagh, Ellen M EM; Wassenaar, Catherine C; David, Sean P SP; Tyndale, Rachel F RF; Altman, Russ B RB; Whirl-Carrillo, Michelle M; Klein, Teri E TE
Publication Date: 2012-09

Variant appearance in text: rs8192726
PubMed Link: 22547082
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modest but variable effect of rifampin on steady-state plasma pharmacokinetics of efavirenz in healthy African-American and Caucasian volunteers.

Antimicrobial Agents And Chemotherapy
Kwara, Awewura A; Tashima, Karen T KT; Dumond, Julie B JB; Poethke, Pamela P; Kurpewski, Jaclyn J; Kashuba, Angela D M AD; Court, Michael H MH; Greenblatt, David J DJ
Publication Date: 2011-07

Variant appearance in text: rs8192726
PubMed Link: 21518840
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz mid-dose concentration in HIV-infected patients.

Aids (London, England)
Kwara, Awewura A; Lartey, Margaret M; Sagoe, Kwamena W C KW; Kenu, Ernest E; Court, Michael H MH
Publication Date: 2009-10-23

Variant appearance in text: rs8192726
PubMed Link: 19779319
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2B6 (c.516G-->T) and CYP2A6 (*9B and/or *17) polymorphisms are independent predictors of efavirenz plasma concentrations in HIV-infected patients.

British Journal Of Clinical Pharmacology
Kwara, Awewura A; Lartey, Margaret M; Sagoe, Kwamena W KW; Rzek, Naser L NL; Court, Michael H MH
Publication Date: 2009-04

Variant appearance in text: rs8192726
PubMed Link: 19371316
Variant Present in the following documents:
  • Main text
View BVdb publication page