CYP2D6 c.358T>A ;(p.F120I)

Variant ID: 22-42525182-A-T

NM_000106.5(CYP2D6):c.358T>A;(p.F120I)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


The Identification of Novel CYP2D6 Variants in US Hmong: Results From Genome Sequencing and Clinical Genotyping.

Frontiers In Pharmacology
Wen, Ya Feng YF; Gaedigk, Andrea A; Boone, Erin C EC; Wang, Wendy Y WY; Straka, Robert J RJ
Publication Date: 2022

Variant appearance in text: CYP2D6: F120I
PubMed Link: 35387332
Variant Present in the following documents:
  • Main text
  • fphar-13-867331.pdf
View BVdb publication page



Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics
Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C
Publication Date: 2021-07-21

Variant appearance in text: CYP2D6: 358T>A; F120I; rs1135822
PubMed Link: 34289880
Variant Present in the following documents:
  • 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
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: 358T>A; Phe120Ile; rs1135822
PubMed Link: 32931151
Variant Present in the following documents:
  • CTS-14-204-s001.xlsx, sheet 1
View BVdb publication page



In Silico Pharmacogenetics CYP2D6 Study Focused on the Pharmacovigilance of Herbal Antidepressants.

Frontiers In Pharmacology
Don, Charleen G CG; Smieško, Martin M
Publication Date: 2020

Variant appearance in text: CYP2D6: F120I
PubMed Link: 32477141
Variant Present in the following documents:
  • Main text
  • fphar-11-00683.pdf
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: F120I; rs1135822
PubMed Link: 32121156
Variant Present in the following documents:
  • Main text
  • genes-11-00262.pdf
View BVdb publication page



Spontaneous Ligand Access Events to Membrane-Bound Cytochrome P450 2D6 Sampled at Atomic Resolution.

Scientific Reports
Fischer, André A; Smieško, Martin M
Publication Date: 2019-11-11

Variant appearance in text: CYP2D6: F120I
PubMed Link: 31712722
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_52681.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: CYP2D6: F120I
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 51
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: F120I
PubMed Link: 30133539
Variant Present in the following documents:
  • Main text
  • pone.0202534.s001.pdf
  • pone.0202534.pdf
View BVdb publication page



CYP2D6 Allelic Variants *34, *17-2, *17-3, and *53 and a Thr309Ala Mutant Display Altered Kinetics and NADPH Coupling in Metabolism of Bufuralol and Dextromethorphan and Altered Susceptibility to Inactivation by SCH 66712.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Glass, Sarah M SM; Martell, Cydney M CM; Oswalt, Alexandria K AK; Osorio-Vasquez, Victoria V; Cho, Christi C; Hicks, Michael J MJ; Mills, Jacqueline M JM; Fujiwara, Rina R; Glista, Michael J MJ; Kamath, Sharat S SS; Furge, Laura Lowe LL
Publication Date: 2018-08

Variant appearance in text: CYP2D6: Phe120Ile
PubMed Link: 29784728
Variant Present in the following documents:
  • Main text
View BVdb publication page



ChannelsDB: database of biomacromolecular tunnels and pores.

Nucleic Acids Research
Pravda, Lukáš L; Sehnal, David D; Svobodová Vareková, Radka R; Navrátilová, Veronika V; Toušek, Dominik D; Berka, Karel K; Otyepka, Michal M; Koca, Jaroslav J
Publication Date: 2018-01-04

Variant appearance in text: CYP2D6: Phe120Ile
PubMed Link: 29036719
Variant Present in the following documents:
  • Main text
  • gkx868.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: F120I; rs1135822
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.pdf
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: 358T>A; Phe120Ile
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: 358T>A; F120I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: Phe120Ile; rs1135822
PubMed Link: 27108086
Variant Present in the following documents:
  • Main text
  • 40246_2016_Article_73.pdf
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: F120I
PubMed Link: 27046024
Variant Present in the following documents:
  • Main text
  • pone.0152946.pdf
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: CYP2D6: 358T>A; F120I; rs1135822
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
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: F120I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: CYP2D6: F120I; rs1135822
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CYP2D6: F120I; rs1135822
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics
Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD
Publication Date: 2014-10

Variant appearance in text: CYP2D6: F120I
PubMed Link: 25299611
Variant Present in the following documents:
  • pgen.1004704.s004.xlsx, sheet 1
View BVdb publication page



Molecular dynamics of CYP2D6 polymorphisms in the absence and presence of a mechanism-based inactivator reveals changes in local flexibility and dominant substrate access channels.

Plos One
de Waal, Parker W PW; Sunden, Kyle F KF; Furge, Laura Lowe LL
Publication Date: 2014

Variant appearance in text: CYP2D6: F120I
PubMed Link: 25286176
Variant Present in the following documents:
  • Main text
  • pone.0108607.pdf
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: CYP2D6: 358T>A; F120I; rs1135822
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Insights into drug metabolism by cytochromes P450 from modelling studies of CYP2D6-drug interactions.

British Journal Of Pharmacology
Maréchal, J-D JD; Kemp, C A CA; Roberts, G C K GC; Paine, M J I MJ; Wolf, C R CR; Sutcliffe, M J MJ
Publication Date: 2008-03

Variant appearance in text: CYP2D6: F120I
PubMed Link: 18026129
Variant Present in the following documents:
  • Main text
View BVdb publication page