CYP2C9 c.485C>A ;(p.S162*)

Variant ID: 10-96707539-C-A

NM_000771.3(CYP2C9):c.485C>A;(p.S162*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs72558190
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: CYP2C9: S162X
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_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: CYP2C9: S162x; rs72558190
PubMed Link: 34621706
Variant Present in the following documents:
  • Main text
  • tcp-29-135.pdf
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Pharmacogenomics Guided Prescription Changes Improved Medication Effectiveness in Patients With Mental Health-Related Disability: A Retrospective Cohort Analyses.

Frontiers In Genetics
Ahmed, Sanjida S; Tahir, Ramzan R; Akhtar, Umbreen U; Faiz, Mark M
Publication Date: 2021

Variant appearance in text: rs72558190
PubMed Link: 34413872
Variant Present in the following documents:
  • Main text
  • fgene-12-644694.pdf
View BVdb publication page



Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Publication Date: 2021-05-11

Variant appearance in text: rs72558190
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Jama Network Open
Cohn, Iris I; Manshaei, Roozbeh R; Liston, Eriskay E; Okello, John B A JBA; Khan, Reem R; Curtis, Meredith R MR; Krupski, Abby J AJ; Jobling, Rebekah K RK; Kalbfleisch, Kelsey K; Paton, Tara A TA; Reuter, Miriam S MS; Hayeems, Robin Z RZ; Verstegen, Ruud H J RHJ; Goldman, Aaron A; Kim, Raymond H RH; Ito, Shinya S
Publication Date: 2021-05-03

Variant appearance in text: rs72558190
PubMed Link: 34037732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics
Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME
Publication Date: 2021

Variant appearance in text: rs72558190
PubMed Link: 33981330
Variant Present in the following documents:
  • Main text
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: rs72558190
PubMed Link: 33922084
Variant Present in the following documents:
  • Main text
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: CYP2C9: 485C>A; Ser162Ter; rs72558190
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: CYP2C9: S162x; rs72558190
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Cavallari, Larisa H LH; Del Tredici, Andria L AL; Hachad, Houda H; Ji, Yuan Y; Kalman, Lisa V LV; Ly, Reynold C RC; Moyer, Ann M AM; Scott, Stuart A SA; Whirl-Carrillo, Michelle M; Weck, Karen E KE
Publication Date: 2020-07

Variant appearance in text: CYP2C9: 485C>A; Ser162Ter; rs72558190
PubMed Link: 32380173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Pharmacogenomics And Personalized Medicine
Chamnanphon, Monpat M; Gaedigk, Andrea A; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Chantratita, Wasun W; Longley, Rhea J RJ; Sattabongkot, Jetsumon J; Chariyavilaskul, Pajaree P; Sukasem, Chonlaphat C
Publication Date: 2020

Variant appearance in text: CYP2C9: 485C>A; rs72558190
PubMed Link: 32021383
Variant Present in the following documents:
  • Main text
  • pgpm-13-1.pdf
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: rs72558190
PubMed Link: 31306493
Variant Present in the following documents:
  • CPT-107-203-s004.pdf
View BVdb publication page



Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.

The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Cavallari, Larisa H LH; Del Tredici, Andria L AL; Hachad, Houda H; Ji, Yuan Y; Moyer, Ann M AM; Scott, Stuart A SA; Whirl-Carrillo, Michelle M; Weck, Karen E KE
Publication Date: 2019-09

Variant appearance in text: CYP2C9: 485C>A; Ser162*; rs72558190
PubMed Link: 31075510
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2018-05

Variant appearance in text: rs72558190
PubMed Link: 29681089
Variant Present in the following documents:
  • Main text
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: CYP2C9: S162X; rs72558190
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.pdf
View BVdb publication page



Anticoagulation endpoints with clinical implementation of warfarin pharmacogenetic dosing in a real-world setting: A proposal for a new pharmacogenetic dosing approach.

Clinical Pharmacology And Therapeutics
Arwood, M J MJ; Deng, J J; Drozda, K K; Pugach, O O; Nutescu, E A EA; Schmidt, S S; Duarte, J D JD; Cavallari, L H LH
Publication Date: 2017-05

Variant appearance in text: CYP2C9: S162X; rs72558190
PubMed Link: 28032893
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: rs72558190
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



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: rs72558190
PubMed Link: 26785747
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_329.pdf
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: rs72558190
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: rs72558190
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: rs72558190
PubMed Link: 24944790
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: CYP2C9: 485C>A
PubMed Link: 20889555
Variant Present in the following documents:
  • Main text
View BVdb publication page