CYP2D6 c.124G>A ;(p.G42R)

Variant ID: 22-42526670-C-T

NM_000106.5(CYP2D6):c.124G>A;(p.G42R)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


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: CYP2D6: G42R; rs5030862
PubMed Link: 34621706
Variant Present in the following documents:
  • Main text
  • tcp-29-135-s001.xls, sheet 1
  • tcp-29-135.pdf
View BVdb publication page



Precision Medicine into Clinical Practice: A Web-Based Tool Enables Real-Time Pharmacogenetic Assessment of Tailored Treatments in Psychiatric Disorders.

Journal Of Personalized Medicine
Zampatti, Stefania S; Fabrizio, Carlo C; Ragazzo, Michele M; Campoli, Giulia G; Caputo, Valerio V; Strafella, Claudia C; Pellicano, Clelia C; Cascella, Raffaella R; Spalletta, Gianfranco G; Petrosini, Laura L; Caltagirone, Carlo C; Termine, Andrea A; Giardina, Emiliano E
Publication Date: 2021-08-27

Variant appearance in text: CYP2D6: 124G>A; Gly42Arg; rs5030862
PubMed Link: 34575628
Variant Present in the following documents:
  • Main text
  • jpm-11-00851.pdf
View BVdb publication page



Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science
Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L
Publication Date: 2021-01

Variant appearance in text: CYP2D6: 124G>A; Gly42Arg; rs5030862
PubMed Link: 32931151
Variant Present in the following documents:
  • CTS-14-204-s001.xlsx, sheet 7
  • CTS-14-204-s001.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: CYP2D6: G42R; rs5030862
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Metabolization Profile of the CYP2D6 Gene in Amerindian Populations: A Review.

Genes
Leitão, Luciana P C LPC; Souza, Tatiane P TP; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Santos, Sidney S; Santos, Ney P C NPC
Publication Date: 2020-02-28

Variant appearance in text: CYP2D6: G42R; rs5030862
PubMed Link: 32121156
Variant Present in the following documents:
  • Main text
  • genes-11-00262.pdf
View BVdb publication page



A functional polymorphism in the ATP-Binding Cassette B1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients.

Pain
Benavides, Rodrigo R; Vsevolozhskaya, Olga O; Cattaneo, Stefano S; Zaykin, Dmitri D; Brenton, Ashley A; Parisien, Marc M; Verma, Vivek V; Khoury, Samar S; Gilron, Ian I; Diatchenko, Luda L
Publication Date: 2020-03

Variant appearance in text: CYP2D6: G42R; rs5030862
PubMed Link: 31738228
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feasibility of Integrating Panel-Based Pharmacogenomics Testing for Chemotherapy and Supportive Care in Patients With Colorectal Cancer.

Technology In Cancer Research & Treatment
Kasi, Pashtoon Murtaza PM; Koep, Tyler T; Schnettler, Erica E; Shahjehan, Faisal F; Kamatham, Vaishnavi V; Baldeo, Candice C; Hughes, Caren L CL
Publication Date: 2019-01-01

Variant appearance in text: CYP2D6: 124G>A; rs5030862
PubMed Link: 31533552
Variant Present in the following documents:
  • OneOme_sample_comprehensive_report.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: CYP2D6: G42R; rs5030862
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: CYP2D6: G42R; rs5030862
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2017-03

Variant appearance in text: CYP2D6: 124G>A; Gly42Arg
PubMed Link: 27537706
Variant Present in the following documents:
  • NIHMS802548-supplement-Table_S4.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: CYP2D6: 124G>A; G42R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method.

Human Genomics
Ben, Songtao S; Cooper-DeHoff, Rhonda M RM; Flaten, Hanna K HK; Evero, Oghenero O; Ferrara, Tracey M TM; Spritz, Richard A RA; Monte, Andrew A AA
Publication Date: 2016-04-23

Variant appearance in text: CYP2D6: Gly42Arg; rs5030862
PubMed Link: 27108086
Variant Present in the following documents:
  • Main text
  • 40246_2016_Article_73.pdf
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: CYP2D6: G42R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: CYP2D6: G42R
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



The relative timing of mutations in a breast cancer genome.

Plos One
Newman, Scott S; Howarth, Karen D KD; Greenman, Chris D CD; Bignell, Graham R GR; Tavaré, Simon S; Edwards, Paul A W PA
Publication Date: 2013

Variant appearance in text: CYP2D6: G42R
PubMed Link: 23762276
Variant Present in the following documents:
  • pone.0064991.s002.xls, sheet 7
View BVdb publication page



Length of psychiatric hospitalization is correlated with CYP2D6 functional status in inpatients with major depressive disorder.

Biomarkers In Medicine
Ruaño, Gualberto G; Szarek, Bonnie L BL; Villagra, David D; Gorowski, Krystyna K; Kocherla, Mohan M; Seip, Richard L RL; Goethe, John W JW; Schwartz, Harold I HI
Publication Date: 2013-06

Variant appearance in text: CYP2D6: G42R
PubMed Link: 23734807
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glutathione metabolism and Parkinson's disease.

Free Radical Biology & Medicine
Smeyne, Michelle M; Smeyne, Richard Jay RJ
Publication Date: 2013-09

Variant appearance in text: CYP2D6: Gly42Arg
PubMed Link: 23665395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Zehnbauer, Barbara B; Wilson, Jean Amos JA; Baak, Ruth R; Babic, Nikolina N; Bettinotti, Maria M; Buller, Arlene A; Butz, Ken K; Campbell, Matthew M; Civalier, Chris C; El-Badry, Abdalla A; Farkas, Daniel H DH; Lyon, Elaine E; Mandal, Saptarshi S; McKinney, Jason J; Muralidharan, Kasinathan K; Noll, LeAnne L; Sander, Tara T; Shabbeer, Junaid J; Smith, Chingying C; Telatar, Milhan M; Toji, Lorraine L; Vairavan, Anand A; Vance, Carlos C; Weck, Karen E KE; Wu, Alan H B AH; Yeo, Kiang-Teck J KT; Zeller, Markus M; Kalman, Lisa L
Publication Date: 2010-11

Variant appearance in text: CYP2D6: 124G>A
PubMed Link: 20889555
Variant Present in the following documents:
  • Main text
View BVdb publication page