Publications:

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Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state.

Blood Advances

Li, Shuang S; Sun, Jie J; Liu, Shixuan S; Zhou, Fengbo F; Gross, Michael M; Li, Weikai W

Publication Date: 2022-12-12

Variant appearance in text: VKCFD2: Arg98Trp

PubMed Link: 36508285

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: VKORC1: R98W; rs72547528

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One

Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D

Publication Date: 2022

Variant appearance in text: VKORC1: R98W; rs72547528

PubMed Link: 35089958

Variant Present in the following documents:

• Main text
• pone.0263137.pdf
• pone.0263137.s001.xlsx, sheet 1

View BVdb publication page

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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: 292C>T; R98W; rs72547528

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

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Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Elife

Chiasson, Melissa A MA; Rollins, Nathan J NJ; Stephany, Jason J JJ; Sitko, Katherine A KA; Matreyek, Kenneth A KA; Verby, Marta M; Sun, Song S; Roth, Frederick P FP; DeSloover, Daniel D; Marks, Debora S DS; Rettie, Allan E AE; Fowler, Douglas M DM

Publication Date: 2020-09-01

Variant appearance in text: VKORC1: R98W

PubMed Link: 32870157

Variant Present in the following documents:

• Main text
• elife-58026.pdf

View BVdb publication page

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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: 292C>T; R98W; rs72547528

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 292C>T; Arg98Trp; rs72547528

PubMed Link: 32380173

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: VKORC1: 292C>T; R98W

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: rs72547528

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: VKORC1: 292C>T; R98W; rs72547528

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Missense mutation of VKORC1 leads to medial arterial calcification in rats.

Scientific Reports

Michaux, Arnaud A; Matagrin, Benjamin B; Debaux, Jean-Valéry JV; Schurgers, Leon J LJ; Benoit, Etienne E; Lattard, Virginie V

Publication Date: 2018-09-13

Variant appearance in text: VKORC1: R98W

PubMed Link: 30214074

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31788.pdf

View BVdb publication page

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Multiplex assessment of protein variant abundance by massively parallel sequencing.

Nature Genetics

Matreyek, Kenneth A KA; Starita, Lea M LM; Stephany, Jason J JJ; Martin, Beth B; Chiasson, Melissa A MA; Gray, Vanessa E VE; Kircher, Martin M; Khechaduri, Arineh A; Dines, Jennifer N JN; Hause, Ronald J RJ; Bhatia, Smita S; Evans, William E WE; Relling, Mary V MV; Yang, Wenjian W; Shendure, Jay J; Fowler, Douglas M DM

Publication Date: 2018-06

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 29785012

Variant Present in the following documents:

View BVdb publication page

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Vitamin K epoxide reductase and its paralogous enzyme have different structures and functions.

Scientific Reports

Sinhadri, Balaji Chandra Sekhar BCS; Jin, Da-Yun DY; Stafford, Darrel W DW; Tie, Jian-Ke JK

Publication Date: 2017-12-15

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 29247216

Variant Present in the following documents:

• 41598_2017_Article_18008.pdf

View BVdb publication page

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ARLTS1 polymorphism is associated with an increased risk of familial cancer: evidence from a meta-analysis.

Hereditary Cancer In Clinical Practice

Jiang, Yan Y; Zhao, Chen-Yang CY; Cheng, Li-Chun LC; Xu, Bing B; Lv, Hui-Yi HY

Publication Date: 2017

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 28630657

Variant Present in the following documents:

• 13053_2017_Article_68.pdf

View BVdb publication page

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Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine

Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F

Publication Date: 2016-12

Variant appearance in text: VKORC1: Arg98Trp; rs72547528

PubMed Link: 28027327

Variant Present in the following documents:

• pmed.1002201.s012.xlsx, sheet 1

View BVdb publication page

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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: VKORC1: 292C>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Structural and functional insights into enzymes of the vitamin K cycle.

Journal Of Thrombosis And Haemostasis : Jth

Tie, J-K JK; Stafford, D W DW

Publication Date: 2016-02

Variant appearance in text: VKORC1: R98W

PubMed Link: 26663892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Everts, Robin E RE; Aggarwal, Praful P; Beyer, Brittany N BN; Broeckel, Ulrich U; Epstein-Baak, Ruth R; Hujsak, Paul P; Kornreich, Ruth R; Liao, Jun J; Lorier, Rachel R; Scott, Stuart A SA; Smith, Chingying Huang CH; Toji, Lorraine H LH; Turner, Amy A; Kalman, Lisa V LV

Publication Date: 2016-01

Variant appearance in text: VKORC1: R98W

PubMed Link: 26621101

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural Modeling Insights into Human VKORC1 Phenotypes.

Nutrients

Czogalla, Katrin J KJ; Watzka, Matthias M; Oldenburg, Johannes J

Publication Date: 2015-08-14

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 26287237

Variant Present in the following documents:

• Main text

View BVdb publication page

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VKORC1 and VKORC1L1: Why do Vertebrates Have Two Vitamin K 2,3-Epoxide Reductases?

Nutrients

Oldenburg, Johannes J; Watzka, Matthias M; Bevans, Carville G CG

Publication Date: 2015-07-30

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 26264021

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: VKORC1: R98W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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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: rs72547528

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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GGCX and VKORC1 inhibit osteocalcin endocrine functions.

The Journal Of Cell Biology

Ferron, Mathieu M; Lacombe, Julie J; Germain, Amélie A; Oury, Franck F; Karsenty, Gérard G

Publication Date: 2015-03-16

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 25753038

Variant Present in the following documents:

• Main text
• JCB_201409111.pdf

View BVdb publication page

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VKORC1 ER mislocalization causes rare disease.

Blood

Van Horn, Wade D WD

Publication Date: 2014-08-21

Variant appearance in text: VKCFD2: Arg98Trp

PubMed Link: 25147380

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs72547528

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Hereditary combined deficiency of the vitamin K-dependent clotting factors.

Orphanet Journal Of Rare Diseases

Napolitano, Mariasanta M; Mariani, Guglielmo G; Lapecorella, Mario M

Publication Date: 2010-07-14

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 20630065

Variant Present in the following documents:

• Main text
• 1750-1172-5-21.pdf

View BVdb publication page

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Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency.

Blood

Darghouth, Dhouha D; Hallgren, Kevin W KW; Shtofman, Rebecca L RL; Mrad, Amel A; Gharbi, Youssef Y; Maherzi, Ahmed A; Kastally, Radhia R; LeRicousse, Sophie S; Berkner, Kathleen L KL; Rosa, Jean-Philippe JP

Publication Date: 2006-09-15

Variant appearance in text: VKORC1: Arg98Trp

PubMed Link: 16720838

Variant Present in the following documents:

• Main text

View BVdb publication page

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