CYP3A4 c.653C>G ;(p.P218R)

Variant ID: 7-99365994-G-C

NM_017460.5(CYP3A4):c.653C>G;(p.P218R)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


The Effects of Cumulative Dose and Polymorphisms in CYP2B6 on the Mitotane Plasma Trough Concentrations in Chinese Patients With Advanced Adrenocortical Carcinoma.

Frontiers In Oncology
Liu, Xin X; Shang, Junmei J; Fu, Qiang Q; Lu, Lin L; Deng, Jianhua J; Tang, Yan Y; Li, Jiantao J; Mei, Dan D; Zhang, Bo B; Zhang, Shuyang S
Publication Date: 2022

Variant appearance in text: rs55901263
PubMed Link: 35847963
Variant Present in the following documents:
  • Main text
  • fonc-12-919027.pdf
View BVdb publication page



Why We Need to Take a Closer Look at Genetic Contributions to CYP3A Activity.

Frontiers In Pharmacology
Zhai, Qinglian Q; van der Lee, Maaike M; van Gelder, Teun T; Swen, Jesse J JJ
Publication Date: 2022

Variant appearance in text: CYP3A4: P218R; rs55901263
PubMed Link: 35784699
Variant Present in the following documents:
  • Main text
  • fphar-13-912618.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: CYP3A4: P218R; rs55901263
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

Genes
Tafazoli, Alireza A; Guggilla, Rama Krishna RK; Kamel-Koleti, Zahra Z; Miltyk, Wojciech W
Publication Date: 2021-03-03

Variant appearance in text: rs55901263
PubMed Link: 33802585
Variant Present in the following documents:
  • Main text
  • genes-12-00361.pdf
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs55901263
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
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: CYP3A4: P218R; rs55901263
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Enzymatic Activities of CYP3A4 Allelic Variants on Quinine 3-Hydroxylation In Vitro.

Frontiers In Pharmacology
Zhou, Xiao-Yang XY; Hu, Xiao-Xia XX; Wang, Chen-Chen CC; Lu, Xiang-Ran XR; Chen, Zhe Z; Liu, Qian Q; Hu, Guo-Xin GX; Cai, Jian-Ping JP
Publication Date: 2019

Variant appearance in text: CYP3A4: P218R
PubMed Link: 31214030
Variant Present in the following documents:
  • Main text
  • fphar-10-00591.pdf
View BVdb publication page



Polymorphism in Cytochrome P450 3A4 Is Ethnicity Related.

Frontiers In Genetics
Guttman, Yelena Y; Nudel, Adi A; Kerem, Zohar Z
Publication Date: 2019

Variant appearance in text: rs55901263
PubMed Link: 30941162
Variant Present in the following documents:
  • Table_2.xlsx, sheet 4
View BVdb publication page



Effects of polymorphic variation on the thermostability of heterogenous populations of CYP3A4 and CYP2C9 enzymes in solution.

Scientific Reports
Arendse, Lauren B LB; Blackburn, Jonathan M JM
Publication Date: 2018-08-08

Variant appearance in text: CYP3A4: P218R
PubMed Link: 30089838
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_30195.pdf
  • 41598_2018_30195_MOESM1_ESM.pdf
View BVdb publication page



P450 Pharmacogenetics in Indigenous North American Populations.

Journal Of Personalized Medicine
Henderson, Lindsay M LM; Claw, Katrina G KG; Woodahl, Erica L EL; Robinson, Renee F RF; Boyer, Bert B BB; Burke, Wylie W; Thummel, Kenneth E KE
Publication Date: 2018-02-01

Variant appearance in text: rs55901263
PubMed Link: 29389890
Variant Present in the following documents:
  • Main text
  • jpm-08-00009.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs55901263
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Functional assessment of CYP3A4 allelic variants on lidocaine metabolism in vitro.

Drug Design, Development And Therapy
Fang, Ping P; Tang, Peng-Fei PF; Xu, Ren-Ai RA; Zheng, Xiang X; Wen, Jian J; Bao, Su-Su SS; Cai, Jian-Ping JP; Hu, Guo-Xin GX
Publication Date: 2017

Variant appearance in text: CYP3A4: P218R
PubMed Link: 29263648
Variant Present in the following documents:
  • Main text
  • dddt-11-3503.pdf
View BVdb publication page



Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics
Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM
Publication Date: 2017-10

Variant appearance in text: CYP3A4: P218R; rs55901263
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.pdf
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: CYP3A4: P218R; rs55901263
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



6. Dose Adjustments Based on Pharmacogenetics of CYP450 Enzymes.

Ejifcc
van Schaik, Ron H N RH
Publication Date: 2008-04

Variant appearance in text: CYP3A4: Pro218Arg
PubMed Link: 27683289
Variant Present in the following documents:
  • ejifcc-19-042.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CYP3A4: 653C>G; P218R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: CYP3A4: P218R
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs55901263
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: rs55901263
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.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: CYP3A4: P218R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: rs55901263
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: rs55901263
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



The Making of a CYP3A Biomarker Panel for Guiding Drug Therapy.

Journal Of Personalized Medicine
Wang, Danxin D; Sadee, Wolfgang W
Publication Date: 2012-10-29

Variant appearance in text: CYP3A4: P218R; rs55901263
PubMed Link: 24466438
Variant Present in the following documents:
  • Main text
  • jpm-02-00175.pdf
View BVdb publication page



Pharmacogenomics of Cytochrome P450 3A4: Recent Progress Toward the "Missing Heritability" Problem.

Frontiers In Genetics
Klein, Kathrin K; Zanger, Ulrich M UM
Publication Date: 2013

Variant appearance in text: rs55901263
PubMed Link: 23444277
Variant Present in the following documents:
  • Main text
  • fgene-04-00012.pdf
View BVdb publication page



Impact of the haplotypes of the human pregnane X receptor gene on the basal and St John's wort-induced activity of cytochrome P450 3A4 enzyme.

British Journal Of Clinical Pharmacology
Wang, Xue-Ding XD; Li, Jia-Li JL; Su, Qi-Biao QB; Guan, Su S; Chen, Jie J; Du, Jun J; He, Yu-Wen YW; Zeng, Jun J; Zhang, Jin-Xin JX; Chen, Xiao X; Huang, Min M; Zhou, Shu-Feng SF
Publication Date: 2009-02

Variant appearance in text: CYP3A4: P218R
PubMed Link: 19173680
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human pharmacogenomic variations and their implications for antifungal efficacy.

Clinical Microbiology Reviews
Meletiadis, Joseph J; Chanock, Stephen S; Walsh, Thomas J TJ
Publication Date: 2006-10

Variant appearance in text: CYP3A4: P218R
PubMed Link: 17041143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced methylprednisolone clearance causing prolonged pharmacodynamics in a healthy subject was not associated with CYP3A5*3 allele or a change in diet composition.

Journal Of Clinical Pharmacology
Lee, Su-Jun SJ; Jusko, William J WJ; Salaita, Christine G CG; Calis, Karim A KA; Jann, Michael W MW; Spratlin, Vicky E VE; Goldstein, Joyce A JA; Hon, Yuen Yi YY
Publication Date: 2006-05

Variant appearance in text: CYP3A4: Pro218Arg
PubMed Link: 16638735
Variant Present in the following documents:
  • Main text
View BVdb publication page