VKORC1 c.358C>T ;(p.L120=)

Variant ID: 16-31102589-G-A

NM_024006.4(VKORC1):c.358C>T;(p.L120=)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: rs7200749
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
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: rs7200749
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
  • fphar-13-931531.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: VKORC1: 358C>T; L120L; rs7200749
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



Gene variants of coagulation related proteins that interact with SARS-CoV-2.

Plos Computational Biology
Holcomb, David D; Alexaki, Aikaterini A; Hernandez, Nancy N; Hunt, Ryan R; Laurie, Kyle K; Kames, Jacob J; Hamasaki-Katagiri, Nobuko N; Komar, Anton A AA; DiCuccio, Michael M; Kimchi-Sarfaty, Chava C
Publication Date: 2021-03

Variant appearance in text: VKORC1: 358C>T
PubMed Link: 33730015
Variant Present in the following documents:
  • Main text
  • pcbi.1008805.pdf
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: rs7200749
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2.

Biorxiv : The Preprint Server For Biology
Holcomb, David D; Alexaki, Aikaterini A; Hernandez, Nancy N; Laurie, Kyle K; Kames, Jacob J; Hamasaki-Katagiri, Nobuko N; Komar, Anton A AA; DiCuccio, Michael M; Kimchi-Sarfaty, Chava C
Publication Date: 2020-09-18

Variant appearance in text: VKORC1: 358C>T
PubMed Link: 32935103
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: VKORC1: 358C>T; L120L; rs7200749
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: VKORC1: 358C>T; Leu120Leu; rs7200749
PubMed Link: 32380173
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine
Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N
Publication Date: 2020-03

Variant appearance in text: rs7200749
PubMed Link: 32125935
Variant Present in the following documents:
  • Main text
  • nihms-1694746.pdf
  • NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 1
View BVdb publication page



Oral Anticoagulant Therapy-When Art Meets Science.

Journal Of Clinical Medicine
Cîmpan, Patricia Lorena PL; Chira, Romeo Ioan RI; Mocan, Mihaela M; Anton, Florin Petru FP; Farcaş, Anca Daniela AD
Publication Date: 2019-10-21

Variant appearance in text: VKORC1: Leu120Leu
PubMed Link: 31640208
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feasibility of Integrating Panel-Based Pharmacogenomics Testing for Chemotherapy and Supportive Care in Patients With Colorectal Cancer.

Technology In Cancer Research & Treatment
Kasi, Pashtoon Murtaza PM; Koep, Tyler T; Schnettler, Erica E; Shahjehan, Faisal F; Kamatham, Vaishnavi V; Baldeo, Candice C; Hughes, Caren L CL
Publication Date: 2019-01-01

Variant appearance in text: VKORC1: 358C>T; rs7200749
PubMed Link: 31533552
Variant Present in the following documents:
  • OneOme_sample_comprehensive_report.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: VKORC1: 358C>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: rs7200749
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



The Advantages and Challenges of Diversity in Pharmacogenomics: Can Minority Populations Bring Us Closer to Implementation?

Clinical Pharmacology And Therapeutics
Zhang, Honghong H; De, Tanima T; Zhong, Yizhen Y; Perera, Minoli A MA
Publication Date: 2019-08

Variant appearance in text: rs7200749
PubMed Link: 31038731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7200749
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



VKORC1-1639A allele influences warfarin maintenance dosage among Blacks receiving warfarin anticoagulation: a retrospective cohort study.

Future Cardiology
Mili, Fatima Donia FD; Allen, Tenecia T; Wadell, Paula Weinstein PW; Hooper, W Craig WC; Staercke, Christine De C; Bean, Christopher J CJ; Lally, Cathy C; Austin, Harland H; Wenger, Nanette K NK
Publication Date: 2018-01

Variant appearance in text: VKORC1: Leu120Leu; rs7200749
PubMed Link: 29218998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Warfarin-induced life-threatening bleeding associated with a CYP3A4 loss-of-function mutation in an acute limb ischemia patient: Case report and review of the literature.

Experimental And Therapeutic Medicine
Ma, Xiao-Wei XW; Hao, Chang-Ning CN; Gu, Zhi-Chun ZC; Ye, Meng M; Li, Min M; Zhang, Lan L
Publication Date: 2017-08

Variant appearance in text: rs7200749
PubMed Link: 28810573
Variant Present in the following documents:
  • Main text
View BVdb publication page



STRATEGIES FOR EQUITABLE PHARMACOGENOMIC-GUIDED WARFARIN DOSING AMONG EUROPEAN AND AFRICAN AMERICAN INDIVIDUALS IN A CLINICAL POPULATION.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Wiley, Laura K LK; Vanhouten, Jacob P JP; Samuels, David C DC; Aldrich, Melinda C MC; Roden, Dan M DM; Peterson, Josh F JF; Denny, Joshua C JC
Publication Date: 2017

Variant appearance in text: rs7200749
PubMed Link: 27897005
Variant Present in the following documents:
  • Main text
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: rs7200749
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.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: rs7200749
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.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: rs7200749
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans.

Blood
Daneshjou, Roxana R; Gamazon, Eric R ER; Burkley, Ben B; Cavallari, Larisa H LH; Johnson, Julie A JA; Klein, Teri E TE; Limdi, Nita N; Hillenmeyer, Sara S; Percha, Bethany B; Karczewski, Konrad J KJ; Langaee, Taimour T; Patel, Shitalben R SR; Bustamante, Carlos D CD; Altman, Russ B RB; Perera, Minoli A MA
Publication Date: 2014-10-02

Variant appearance in text: rs7200749
PubMed Link: 25079360
Variant Present in the following documents:
  • Main text
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: rs7200749
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel associations of VKORC1 variants with higher acenocoumarol requirements.

Plos One
Anton, Ana Isabel AI; Cerezo-Manchado, Juan J JJ; Padilla, Jose J; Perez-Andreu, Virginia V; Corral, Javier J; Vicente, Vicente V; Roldan, Vanessa V; Gonzalez-Conejero, Rocio R
Publication Date: 2013

Variant appearance in text: VKORC1: L120L; rs7200749
PubMed Link: 23691226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans.

Plos One
Patillon, Blandine B; Luisi, Pierre P; Blanché, Hélène H; Patin, Etienne E; Cann, Howard M HM; Génin, Emmanuelle E; Sabbagh, Audrey A
Publication Date: 2012

Variant appearance in text: rs7200749
PubMed Link: 23285254
Variant Present in the following documents:
  • Main text
  • pone.0053049.pdf
View BVdb publication page



Pharmacogenomics of warfarin in populations of African descent.

British Journal Of Clinical Pharmacology
Suarez-Kurtz, Guilherme G; Botton, Mariana R MR
Publication Date: 2013-02

Variant appearance in text: VKORC1: L120L; rs7200749
PubMed Link: 22676711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation.

Current Pharmacogenomics And Personalized Medicine
Warnich, Louise L; Drögemöller, Britt I BI; Pepper, Michael S MS; Dandara, Collet C; Wright, Galen E B GE
Publication Date: 2011-09

Variant appearance in text: rs7200749
PubMed Link: 22563365
Variant Present in the following documents:
  • Main text
  • CPPM-9-191.pdf
View BVdb publication page



New genetic variant that might improve warfarin dose prediction in African Americans.

British Journal Of Clinical Pharmacology
Schelleman, Hedi H; Brensinger, Colleen M CM; Chen, Jinbo J; Finkelman, Brian S BS; Rieder, Mark J MJ; Kimmel, Stephen E SE
Publication Date: 2010-09

Variant appearance in text: rs7200749
PubMed Link: 20716240
Variant Present in the following documents:
  • Main text
View BVdb publication page