CYP2C19 c.986G>A ;(p.R329H)

Variant ID: 10-96602618-G-A

NM_000769.1(CYP2C19):c.986G>A;(p.R329H)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: CYP2C19: 986G>A; R329H; rs138142612
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: CYP2C19: R329H
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CYP2C19: R329H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics
Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE
Publication Date: 2020-01

Variant appearance in text: rs138142612
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.pdf
View BVdb publication page



Coverage rate of ADME genes from commercial sequencing arrays.

Medicine
Zaid, Nabil N; Limami, Youness Y; Senhaji, Nezha N; Errafiy, Nadia N; Khalki, Loubna L; Bakri, Youssef Y; Zaid, Younes Y; Amzazi, Saaid S
Publication Date: 2019-01

Variant appearance in text: rs138142612
PubMed Link: 30653102
Variant Present in the following documents:
  • Main text
  • medi-98-e13975.pdf
View BVdb publication page



The effects of cytochrome P450 2C19 polymorphism on the metabolism of voriconazole in vitro.

Infection And Drug Resistance
Xu, Ren-Ai RA; Gu, Er-Min EM; Liu, Teng-Hui TH; Ou-Yang, Qiu-Geng QG; Hu, Guo-Xin GX; Cai, Jian-Ping JP
Publication Date: 2018

Variant appearance in text: CYP2C19: R329H
PubMed Link: 30464555
Variant Present in the following documents:
  • Main text
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: CYP2C19: R329H; rs138142612
PubMed Link: 30206299
Variant Present in the following documents:
  • 41397_2018_44_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.

Journal Of Personalized Medicine
Brown, Sherry-Ann SA; Pereira, Naveen N
Publication Date: 2018-01-30

Variant appearance in text: CYP2C19: R329H
PubMed Link: 29385765
Variant Present in the following documents:
  • Main text
  • jpm-08-00008.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: rs138142612
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.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: CYP2C19: 986G>A; R329H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CYP2C19: R329H
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.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: CYP2C19: R329H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CYP2C19: R329H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One
Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S
Publication Date: 2013

Variant appearance in text: CYP2C19: R329H
PubMed Link: 24340040
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19.

Frontiers In Genetics
Helsby, Nuala Ann NA; Burns, Kathryn Elisa KE
Publication Date: 2012

Variant appearance in text: CYP2C19: R329H
PubMed Link: 23087703
Variant Present in the following documents:
  • Main text
  • fgene-03-00206.pdf
View BVdb publication page



PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19.

Pharmacogenetics And Genomics
Scott, Stuart A SA; Sangkuhl, Katrin K; Shuldiner, Alan R AR; Hulot, Jean-Sébastien JS; Thorn, Caroline F CF; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2012-02

Variant appearance in text: CYP2C19: 986G>A; R329H; rs138142612
PubMed Link: 22027650
Variant Present in the following documents:
  • Main text
View BVdb publication page