CYP2C8 c.556C>T ;(p.R186*)

Variant ID: 10-96824643-G-A

NM_000770.3(CYP2C8):c.556C>T;(p.R186*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Functional Characterization of Allelic Variations of Human Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F).

International Journal Of Molecular Sciences
Lee, Yoo-Bin YB; Kim, Vitchan V; Lee, Sung-Gyu SG; Lee, Gyu-Hyeong GH; Kim, Changmin C; Jeong, Eunseo E; Kim, Donghak D
Publication Date: 2023-04-28

Variant appearance in text: CYP2C8: R186X
PubMed Link: 37175734
Variant Present in the following documents:
  • Main text
  • ijms-24-08032.pdf
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: CYP2C8: R186*; rs72558195
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
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: CYP2C8: R186X; rs72558195
PubMed Link: 36068297
Variant Present in the following documents:
  • Main text
  • 41397_2022_Article_288.pdf
View BVdb publication page



Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology
Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2022

Variant appearance in text: CYP2C8: 556C>T; Arg186Ter; rs72558195
PubMed Link: 35846994
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



The Association between Single Nucleotide Polymorphisms, including miR-499a Genetic Variants, and Dyslipidemia in Subjects Treated with Pharmacological or Phytochemical Lipid-Lowering Agents.

International Journal Of Molecular Sciences
Giuliani, Angelica A; Montesanto, Alberto A; Matacchione, Giulia G; Graciotti, Laura L; Ramini, Deborah D; Protic, Olga O; Galeazzi, Roberta R; Antonicelli, Roberto R; Tortato, Elena E; Bonfigli, Anna Rita AR; Sabbatinelli, Jacopo J; Olivieri, Fabiola F
Publication Date: 2022-05-17

Variant appearance in text: rs72558195
PubMed Link: 35628426
Variant Present in the following documents:
  • Main text
  • ijms-23-05617.pdf
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: rs72558195
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



Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Publication Date: 2021-06-17

Variant appearance in text: CYP2C8: R186X; rs72558195
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants related to successful migraine prophylaxis with verapamil.

Molecular Genetics & Genomic Medicine
Cutrer, Fred Michael FM; Moyer, Ann M AM; Atkinson, Elizabeth J EJ; Wang, Liguo L; Tian, Shulan S; Wu, Yanhong Y; Garza, Ivan I; Robertson, Carrie E CE; Huebert, Carey A CA; Moore, Brenda E BE; Klein, Christopher J CJ
Publication Date: 2021-06

Variant appearance in text: rs72558195
PubMed Link: 33829662
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1680.pdf
View BVdb publication page



Genetic variants related to successful migraine prophylaxis with verapamil.

Molecular Genetics & Genomic Medicine
Cutrer, Fred Michael FM; Moyer, Ann M AM; Atkinson, Elizabeth J EJ; Wang, Liguo L; Tian, Shulan S; Wu, Yanhong Y; Garza, Ivan I; Robertson, Carrie E CE; Huebert, Carey A CA; Moore, Brenda E BE; Klein, Christopher J CJ
Publication Date: 2021-06

Variant appearance in text: rs72558195
PubMed Link: 33829662
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1680.pdf
View BVdb publication page



How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?

Frontiers In Genetics
Carvalho Henriques, Beatriz B; Yang, Esther H EH; Lapetina, Diego D; Carr, Michael S MS; Yavorskyy, Vasyl V; Hague, Joshua J; Aitchison, Katherine J KJ
Publication Date: 2020

Variant appearance in text: CYP2C8: R186X
PubMed Link: 33363564
Variant Present in the following documents:
  • fgene-11-491895.pdf
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: rs72558195
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
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: CYP2C8: R186*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: rs72558195
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: CYP2C8: R186*; rs72558195
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 3
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 2
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: CYP2C8: R186X; rs72558195
PubMed Link: 28378927
Variant Present in the following documents:
  • Main text
  • CPT-102-688.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: CYP2C8: R186X; rs72558195
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



The influence of CYP2C8*3 on carbamazepine serum concentration in epileptic pediatric patients.

Balkan Journal Of Medical Genetics : Bjmg
Milovanovic, D D DD; Milovanovic, J R JR; Radovanovic, M M; Radosavljevic, I I; Obradovic, S S; Jankovic, S S; Milovanovic, D D; Djordjevic, N N
Publication Date: 2016-07-01

Variant appearance in text: CYP2C8: R186X
PubMed Link: 27785404
Variant Present in the following documents:
  • bjmg-2016-0003.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: CYP2C8: 556C>T; R186*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.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: rs72558195
PubMed Link: 26785747
Variant Present in the following documents:
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: rs72558195
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR
Publication Date: 2015

Variant appearance in text: CYP2C8: R186X
PubMed Link: 25794181
Variant Present in the following documents:
  • pone.0121812.pdf
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: rs72558195
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
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: CYP2C8: R186*
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-8.xlsx, sheet 1
View BVdb publication page



Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.

The Pharmacogenomics Journal
Martis, S S; Peter, I I; Hulot, J-S JS; Kornreich, R R; Desnick, R J RJ; Scott, S A SA
Publication Date: 2013-08

Variant appearance in text: CYP2C8: R186X
PubMed Link: 22491019
Variant Present in the following documents:
  • nihms-361673.pdf
View BVdb publication page