CYP3A5 c.1337T>C ;(p.F446S)

Variant ID: 7-99247772-A-G

NM_000777.3(CYP3A5):c.1337T>C;(p.F446S)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.

International Journal Of Molecular Sciences
Vaiman, Elena E EE; Shnayder, Natalia A NA; Zhuravlev, Nikita M NM; Petrova, Marina M MM; Asadullin, Azat R AR; Al-Zamil, Mustafa M; Garganeeva, Natalia P NP; Shipulin, German A GA; Cumming, Paul P; Nasyrova, Regina F RF
Publication Date: 2022-12-13

Variant appearance in text: rs41279854
PubMed Link: 36555428
Variant Present in the following documents:
  • ijms-23-15786.pdf
View BVdb publication page



Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-α Genes: An In Silico Analysis.

Biomolecules
Ramayanam, Navakanth Raju NR; Manickam, Ranjani R; Mahalingam, Vijayakumar Thangavel VT; Goh, Khang Wen KW; Ardianto, Chrismawan C; Ganesan, Poovi P; Ming, Long Chiau LC; Ganesan, Rajanandh Muhasaparur RM
Publication Date: 2022-09-16

Variant appearance in text: CYP3A5: F446S; rs41279854
PubMed Link: 36139147
Variant Present in the following documents:
  • Main text
  • biomolecules-12-01307.pdf
View BVdb publication page



The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12

Variant appearance in text: CYP3A5: 1337T>C; Phe446Ser; rs41279854
PubMed Link: 36068297
Variant Present in the following documents:
  • 41397_2022_288_MOESM4_ESM.xlsx, sheet 1
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: CYP3A5: F446S; rs41279854
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



Using Pharmacogenetics of Direct Oral Anticoagulants to Predict Changes in Their Pharmacokinetics and the Risk of Adverse Drug Reactions.

Biomedicines
Shnayder, Natalia A NA; Petrova, Marina M MM; Shesternya, Pavel A PA; Savinova, Alina V AV; Bochanova, Elena N EN; Zimnitskaya, Olga V OV; Pozhilenkova, Elena A EA; Nasyrova, Regina F RF
Publication Date: 2021-04-22

Variant appearance in text: rs41279854
PubMed Link: 33922084
Variant Present in the following documents:
  • Main text
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: CYP3A5: F446S; rs41279854
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology
Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S
Publication Date: 2019-04

Variant appearance in text: rs41279854
PubMed Link: 30870275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of breast cancer cell response to metabolic drugs.

Oncotarget
Trilla-Fuertes, Lucía L; Gámez-Pozo, Angelo A; Arevalillo, Jorge M JM; Díaz-Almirón, Mariana M; Prado-Vázquez, Guillermo G; Zapater-Moros, Andrea A; Navarro, Hilario H; Aras-López, Rosa R; Dapía, Irene I; López-Vacas, Rocío R; Nanni, Paolo P; Llorente-Armijo, Sara S; Arias, Pedro P; Borobia, Alberto M AM; Maín, Paloma P; Feliú, Jaime J; Espinosa, Enrique E; Fresno Vara, Juan Ángel JÁ
Publication Date: 2018-02-09

Variant appearance in text: CYP3A5: 1337T>C; rs41279854
PubMed Link: 29515760
Variant Present in the following documents:
  • Main text
  • oncotarget-09-9645-s002.xlsx, sheet 2
  • oncotarget-09-9645.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: rs41279854
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science
Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ
Publication Date: 2018-03

Variant appearance in text: rs41279854
PubMed Link: 29193749
Variant Present in the following documents:
  • Main text
  • CTS-11-189.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: rs41279854
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
  • fpc-27-089-s004.xlsx, sheet 2
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: CYP3A5: 1337T>C; F446S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics
Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM
Publication Date: 2016-01-19

Variant appearance in text: rs41279854
PubMed Link: 26785747
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_329.pdf
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: rs41279854
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: CYP3A5: F446S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: rs41279854
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: rs41279854
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs41279854
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CYP3A5: F446S
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: CYP3A5: F446S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page



A new CYP3A5 variant, CYP3A5*11, is shown to be defective in nifedipine metabolism in a recombinant cDNA expression system.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Lee, Su-Jun SJ; van der Heiden, Ilse P IP; Goldstein, Joyce A JA; van Schaik, Ron H N RH
Publication Date: 2007-01

Variant appearance in text: CYP3A5: F446S
PubMed Link: 17035598
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: CYP3A5: Phe446Ser
PubMed Link: 16638735
Variant Present in the following documents:
  • Main text
View BVdb publication page