CYP2D6 c.505G>A ;(p.G169R)

Variant ID: 22-42525035-C-T

NM_000106.5(CYP2D6):c.505G>A;(p.G169R)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine
Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y
Publication Date: 2022-06

Variant appearance in text: CYP2D6: 505G>A; G169R
PubMed Link: 35665479
Variant Present in the following documents:
  • CTM2-12-e843-s002.xlsx, sheet 10
View BVdb publication page



A Computational Understanding of Inter-Individual Variability in CYP2D6 Activity to Investigate the Impact of Missense Mutations on Ochratoxin A Metabolism.

Toxins
Dorne, Jean Lou C M JLCM; Cirlini, Martina M; Louisse, Jochem J; Pedroni, Lorenzo L; Galaverna, Gianni G; Dellafiora, Luca L
Publication Date: 2022-03-14

Variant appearance in text: CYP2D6: G169R
PubMed Link: 35324704
Variant Present in the following documents:
  • Main text
  • toxins-14-00207.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: N/A
PubMed Link: 35115730
Variant Present in the following documents:
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 35095878
Variant Present in the following documents:
View BVdb publication page



Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: N/A
PubMed Link: 34635181
Variant Present in the following documents:
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: 505G>A; rs5030865
PubMed Link: 34575628
Variant Present in the following documents:
  • Main text
  • jpm-11-00851.pdf
View BVdb publication page



Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.

Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Publication Date: 2021-09-21

Variant appearance in text: CYP2D6: 505G>A
PubMed Link: 34548479
Variant Present in the following documents:
  • 41467_2021_25769_MOESM5_ESM.xlsx, sheet 7
View BVdb publication page



A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z
Publication Date: 2021-05

Variant appearance in text: CYP2D6: G169R
PubMed Link: 34026427
Variant Present in the following documents:
  • ADVS-8-2001978-s004.xlsx, sheet 4
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: N/A
PubMed Link: 33424349
Variant Present in the following documents:
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: N/A
PubMed Link: 32931151
Variant Present in the following documents:
View BVdb publication page



ARPNet: Antidepressant Response Prediction Network for Major Depressive Disorder.

Genes
Chang, Buru B; Choi, Yonghwa Y; Jeon, Minji M; Lee, Junhyun J; Han, Kyu-Man KM; Kim, Aram A; Ham, Byung-Joo BJ; Kang, Jaewoo J
Publication Date: 2019-11-07

Variant appearance in text: CYP2D6: Gly169Arg
PubMed Link: 31703457
Variant Present in the following documents:
  • genes-10-00907.pdf
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: N/A
PubMed Link: 31159795
Variant Present in the following documents:
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: N/A
PubMed Link: 30380422
Variant Present in the following documents:
View BVdb publication page



An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal
Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM
Publication Date: 2019-04

Variant appearance in text: N/A
PubMed Link: 30206299
Variant Present in the following documents:
View BVdb publication page



Microsecond MD simulations of human CYP2D6 wild-type and five allelic variants reveal mechanistic insights on the function.

Plos One
Don, Charleen G CG; Smieško, Martin M
Publication Date: 2018

Variant appearance in text: CYP2D6: G169R
PubMed Link: 30133539
Variant Present in the following documents:
  • pone.0202534.pdf
View BVdb publication page



Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.

Biochemical Pharmacology
Ahmad, Taha T; Valentovic, Monica A MA; Rankin, Gary O GO
Publication Date: 2018-07

Variant appearance in text: CYP2D6: 505G>A; G169R; rs5030865
PubMed Link: 29458047
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 27984508
Variant Present in the following documents:
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: Gly169Arg
PubMed Link: 27537706
Variant Present in the following documents:
  • NIHMS802548-supplement-Table_S4.pdf
View BVdb publication page



Comparison of genome sequencing and clinical genotyping for pharmacogenes.

Clinical Pharmacology And Therapeutics
Yang, W W; Wu, G G; Broeckel, U U; Smith, C A CA; Turner, V V; Haidar, C E CE; Wang, S S; Carter, R R; Karol, S E SE; Neale, G G; Crews, K R KR; Yang, J J JJ; Mullighan, C G CG; Downing, J R JR; Evans, W E WE; Relling, M V MV
Publication Date: 2016-10

Variant appearance in text: CYP2D6: G169R
PubMed Link: 27311679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Dynamics Simulations to Investigate the Influences of Amino Acid Mutations on Protein Three-Dimensional Structures of Cytochrome P450 2D6.1, 2, 10, 14A, 51, and 62.

Plos One
Fukuyoshi, Shuichi S; Kometani, Masaharu M; Watanabe, Yurie Y; Hiratsuka, Masahiro M; Yamaotsu, Noriyuki N; Hirono, Shuichi S; Manabe, Noriyoshi N; Takahashi, Ohgi O; Oda, Akifumi A
Publication Date: 2016

Variant appearance in text: CYP2D6: G169R
PubMed Link: 27046024
Variant Present in the following documents:
  • Main text
  • pone.0152946.pdf
View BVdb publication page



Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

Clinical Pharmacology And Therapeutics
Kalman, L V LV; Agúndez, Jag J; Appell, M Lindqvist ML; Black, J L JL; Bell, G C GC; Boukouvala, S S; Bruckner, C C; Bruford, E E; Caudle, K K; Coulthard, S A SA; Daly, A K AK; Del Tredici, Al A; den Dunnen, J T JT; Drozda, K K; Everts, R E RE; Flockhart, D D; Freimuth, R R RR; Gaedigk, A A; Hachad, H H; Hartshorne, T T; Ingelman-Sundberg, M M; Klein, T E TE; Lauschke, V M VM; Maglott, D R DR; McLeod, H L HL; McMillin, G A GA; Meyer, U A UA; Müller, D J DJ; Nickerson, D A DA; Oetting, W S WS; Pacanowski, M M; Pratt, V M VM; Relling, M V MV; Roberts, A A; Rubinstein, W S WS; Sangkuhl, K K; Schwab, M M; Scott, S A SA; Sim, S C SC; Thirumaran, R K RK; Toji, L H LH; Tyndale, R F RF; van Schaik, Rhn R; Whirl-Carrillo, M M; Yeo, Ktj K; Zanger, U M UM
Publication Date: 2016-02

Variant appearance in text: CYP2D6: 505G>A; rs5030865
PubMed Link: 26479518
Variant Present in the following documents:
  • Main text
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: G169R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Prevalence of the CYP2D6*10 (C100T), *4 (G1846A), and *14 (G1758A) alleles among Iranians of different ethnicities.

Drug Design, Development And Therapy
Bagheri, Ali A; Kamalidehghan, Behnam B; Haghshenas, Maryam M; Azadfar, Parisa P; Akbari, Leila L; Sangtarash, Mohammad Hossein MH; Vejdandoust, Faramarz F; Ahmadipour, Fatemeh F; Meng, Goh Yong GY; Houshmand, Massoud M
Publication Date: 2015

Variant appearance in text: CYP2D6: G169R
PubMed Link: 25999696
Variant Present in the following documents:
  • dddt-9-2627.pdf
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: G169R
PubMed Link: 23734807
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: CYP2D6: 505G>A; G169R; rs5030865
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page



Pharmacogenetics and gender association with psychotic episodes on nortriptyline lower doses: patient cases.

Isrn Pharmaceutics
Piatkov, Irina I; Jones, Trudi T
Publication Date: 2011

Variant appearance in text: CYP2D6: G169R
PubMed Link: 22389859
Variant Present in the following documents:
  • PHARMACEUTICS2011-805983.pdf
View BVdb publication page