Publications:

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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: CYP2B6: G99E; rs36060847

PubMed Link: 36068297

Variant Present in the following documents:

• Main text
• 41397_2022_Article_288.pdf

View BVdb publication page

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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: CYP2B6: G99E

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The correlation between the level of 3-hydroxypropyl mercapturic acid, CYP2B6 polymorphisms, and hematuria occurrences after cyclophosphamide administration and its bioanalytical methods: A systematic review.

Heliyon

Harahap, Yahdiana Y; Nurahman, Farhan F; Purwanto, Denni Joko DJ; Yanuar, Arry A

Publication Date: 2021-10

Variant appearance in text: CYP2B6: G99E

PubMed Link: 34746455

Variant Present in the following documents:

• Main text
• main.pdf

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: CYP2B6: G99E; rs36060847

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

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HIV-1 and human genetic variation.

Nature Reviews. Genetics

McLaren, Paul J PJ; Fellay, Jacques J

Publication Date: 2021-10

Variant appearance in text: rs36060847

PubMed Link: 34168330

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R

Publication Date: 2021-06-01

Variant appearance in text: CYP2B6: G99E

PubMed Link: 34050029

Variant Present in the following documents:

• pnas.2104504118.sd02.xlsx, sheet 1

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs36060847

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CYP2B6: 296G>A; G99E

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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: CYP2B6: G99E; rs36060847

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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Analysis of protein missense alterations by combining sequence- and structure-based methods.

Molecular Genetics & Genomic Medicine

Gyulkhandanyan, Aram A; Rezaie, Alireza R AR; Roumenina, Lubka L; Lagarde, Nathalie N; Fremeaux-Bacchi, Veronique V; Miteva, Maria A MA; Villoutreix, Bruno O BO

Publication Date: 2020-04

Variant appearance in text: CYP2B6: Gly99Glu

PubMed Link: 32096919

Variant Present in the following documents:

• Main text
• MGG3-8-e1166.pdf

View BVdb publication page

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The importance of both CYP2C19 and CYP2B6 germline variations in cyclophosphamide pharmacokinetics and clinical outcomes.

British Journal Of Clinical Pharmacology

Helsby, N A NA; Yong, M M; van Kan, M M; de Zoysa, J R JR; Burns, K E KE

Publication Date: 2019-09

Variant appearance in text: rs36060847

PubMed Link: 31218720

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs36060847

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: CYP2B6: G99E; rs36060847

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

View BVdb publication page

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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: CYP2B6: G99E; rs36060847

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CYP2B6: G99E; rs36060847

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs36060847

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CYP2B6: 296G>A; G99E; rs36060847

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

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: CYP2B6: G99E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: rs36060847

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: rs36060847

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CYP2B6: 296G>A; G99E; rs36060847

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine.

Colombia Medica (Cali, Colombia)

Isaza, Carlos C; Henao, Julieta J; Beltrán, Leonardo L; Porras, Liliana L; Gonzalez, Martha M; Cruz, Raquel R; Carracedo, Angel A

Publication Date: 2013-01

Variant appearance in text: rs36060847

PubMed Link: 24892317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of influence of single nucleotide polymorphisms in cytochrome P450 2B6 on substrate recognition using computational docking and molecular dynamics simulation.

Plos One

Kobayashi, Kana K; Takahashi, Ohgi O; Hiratsuka, Masahiro M; Yamaotsu, Noriyuki N; Hirono, Shuichi S; Watanabe, Yurie Y; Oda, Akifumi A

Publication Date: 2014

Variant appearance in text: CYP2B6: Gly99Glu

PubMed Link: 24796891

Variant Present in the following documents:

• Main text
• pone.0096789.pdf

View BVdb publication page

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CYP2B6 non-coding variation associated with smoking cessation is also associated with differences in allelic expression, splicing, and nicotine metabolism independent of common amino-acid changes.

Plos One

Bloom, A Joseph AJ; Martinez, Maribel M; Chen, Li-Shiun LS; Bierut, Laura J LJ; Murphy, Sharon E SE; Goate, Alison A

Publication Date: 2013

Variant appearance in text: CYP2B6: G99E; rs36060847

PubMed Link: 24260284

Variant Present in the following documents:

• Main text
• pone.0079700.pdf

View BVdb publication page

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Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature

Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA

Publication Date: 2012-05-09

Variant appearance in text: CYP2B6: 296G>A; G99E; rs36060847

PubMed Link: 22622578

Variant Present in the following documents:

• NIHMS362881-supplement-3.xlsx, sheet 5

View BVdb publication page

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Analysis of pharmacogenetic traits in two distinct South African populations.

Human Genomics

Ikediobi, Ogechi O; Aouizerat, Bradley B; Xiao, Yuanyuan Y; Gandhi, Monica M; Gebhardt, Stefan S; Warnich, Louise L

Publication Date: 2011-05

Variant appearance in text: rs36060847

PubMed Link: 21712189

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans.

British Journal Of Clinical Pharmacology

Mukonzo, Jackson K JK; Röshammar, Daniel D; Waako, Paul P; Andersson, Maria M; Fukasawa, Takashi T; Milani, Lili L; Svensson, Jan Olof JO; Ogwal-Okeng, Jasper J; Gustafsson, Lars L LL; Aklillu, Eleni E

Publication Date: 2009-11

Variant appearance in text: CYP2B6: G99E; rs36060847

PubMed Link: 19916993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Decreased susceptibility of the cytochrome P450 2B6 variant K262R to inhibition by several clinically important drugs.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Talakad, Jyothi C JC; Kumar, Santosh S; Halpert, James R JR

Publication Date: 2009-03

Variant appearance in text: CYP2B6: G99E

PubMed Link: 19074527

Variant Present in the following documents:

• Main text

View BVdb publication page

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