SLCO1B1 c.597C>T ;(p.F199=)

Variant ID: 12-21331625-C-T

NM_006446.4(SLCO1B1):c.597C>T;(p.F199=)

This variant was identified in 61 publications

View GRCh38 version.




Publications:


Are Genetic Modifiers the Answer to Different Responses to Hydroxyurea Treatment?-A Pharmacogenetic Study in Sickle Cell Anemia Angolan Children.

International Journal Of Molecular Sciences
Ginete, Catarina C; Delgadinho, Mariana M; Santos, Brígida B; Pinto, Vera V; Silva, Carina C; Miranda, Armandina A; Brito, Miguel M
Publication Date: 2023-05-15

Variant appearance in text: rs2291075
PubMed Link: 37240136
Variant Present in the following documents:
  • Main text
  • ijms-24-08792.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



The Effect of Voriconazole on Tacrolimus in Kidney Transplantation Recipients: A Real-World Study.

Pharmaceutics
Zhao, Yi-Chang YC; Xiao, Chen-Lin CL; Hou, Jing-Jing JJ; Li, Jia-Kai JK; Zhang, Bi-Kui BK; Xie, Xu-Biao XB; Fang, Chun-Hua CH; Peng, Feng-Hua FH; Sandaradura, Indy I; Yan, Miao M
Publication Date: 2022-12-07

Variant appearance in text: rs2291075
PubMed Link: 36559231
Variant Present in the following documents:
  • pharmaceutics-14-02739.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: SLCO1B1: 597C>T; Phe199=
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Role of Drug Transporters in Elucidating Inter-Individual Variability in Pediatric Chemotherapy-Related Toxicities and Response.

Pharmaceuticals (Basel, Switzerland)
Kamath, Ashwin A; Srinivasamurthy, Suresh Kumar SK; Chowta, Mukta N MN; Ullal, Sheetal D SD; Daali, Youssef Y; Chakradhara Rao, Uppugunduri S US
Publication Date: 2022-08-11

Variant appearance in text: rs2291075
PubMed Link: 36015138
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-15-00990.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: SLCO1B1: 597C>T; Phe199=; rs2291075
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population.

Frontiers In Genetics
Xie, Qiufen Q; Li, Yuan Y; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Jiang, Jie J; Li, Xin X; Xiang, Qian Q; Cui, Yimin Y
Publication Date: 2022

Variant appearance in text: rs2291075
PubMed Link: 35646073
Variant Present in the following documents:
  • fgene-13-873031.pdf
View BVdb publication page



Systematic Review of Pharmacogenetics of ABC and SLC Transporter Genes in Acute Myeloid Leukemia.

Pharmaceutics
Megías-Vericat, Juan Eduardo JE; Martínez-Cuadrón, David D; Solana-Altabella, Antonio A; Poveda, José Luis JL; Montesinos, Pau P
Publication Date: 2022-04-17

Variant appearance in text: rs2291075
PubMed Link: 35456712
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-00878.pdf
View BVdb publication page



Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives.

Pharmaceutics
Pinto-Merino, Álvaro Á; Labrador, Jorge J; Zubiaur, Pablo P; Alcaraz, Raquel R; Herrero, María José MJ; Montesinos, Pau P; Abad-Santos, Francisco F; Saiz-Rodríguez, Miriam M
Publication Date: 2022-03-03

Variant appearance in text: SLCO1B1: 597C>T; rs2291075
PubMed Link: 35335935
Variant Present in the following documents:
  • pharmaceutics-14-00559.pdf
View BVdb publication page



Diffuse invasive signet ring cell carcinoma in total colorectum caused by ulcerative colitis: A case report and review of literature.

World Journal Of Clinical Cases
Zhang, Zhi Z; Yu, Peng-Fei PF; Gu, Guo-Li GL; Zhang, Yu-Hui YH; Wang, Yu-Ming YM; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR
Publication Date: 2022-02-16

Variant appearance in text: SLCO1B1: 597C>T; F199F
PubMed Link: 35211616
Variant Present in the following documents:
  • WJCC-10-1729.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: SLCO1B1: F199=
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations.

Peerj
Bharti, Neeraj N; Banerjee, Ruma R; Achalere, Archana A; Kasibhatla, Sunitha Manjari SM; Joshi, Rajendra R
Publication Date: 2021

Variant appearance in text: rs2291075
PubMed Link: 34824904
Variant Present in the following documents:
  • Main text
  • peerj-09-12294.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: SLCO1B1: 597C>T; F199F; rs2291075
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



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: SLCO1B1: F199F
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
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: rs2291075
PubMed Link: 33875422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm).

Human Genome Variation
Runcharoen, Chakkaphan C; Fukunaga, Koya K; Sensorn, Insee I; Iemwimangsa, Nareenart N; Klumsathian, Sommon S; Tong, Hang H; Vo, Nam Sy NS; Le, Ly L; Hlaing, Tin Maung TM; Thant, Myo M; Zain, Shamsul Mohd SM; Mohamed, Zahurin Z; Pung, Yuh-Fen YF; Capule, Francis F; Nevado, Jose J; Silao, Catherine Lynn CL; Al-Mahayri, Zeina N ZN; Ali, Bassam R BR; Yuliwulandari, Rika R; Prayuni, Kinasih K; Zahroh, Hilyatuz H; Noor, Dzul Azri Mohamed DAM; Xangsayarath, Phonepadith P; Xayavong, Dalouny D; Kounnavong, Sengchanh S; Sayasone, Somphou S; Kordou, Zoe Z; Liopetas, Ioannis I; Tsikrika, Athina A; Tsermpini, Evangelia-Eirini EE; Koromina, Maria M; Mitropoulou, Christina C; Patrinos, George P GP; Kesornsit, Aumpika A; Charoenyingwattana, Angkana A; Wattanapokayakit, Sukanya S; Mahasirimongkol, Surakameth S; Mushiroda, Taisei T; Chantratita, Wasun W
Publication Date: 2021-02-04

Variant appearance in text: rs2291075
PubMed Link: 33542200
Variant Present in the following documents:
  • Main text
  • 41439_2021_Article_135.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: SLCO1B1: F199F; rs2291075
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



The influence of recipient SLCO1B1 rs2291075 polymorphism on tacrolimus dose-corrected trough concentration in the early period after liver transplantation.

European Journal Of Clinical Pharmacology
Wu, Yi Y; Fang, Fang F; Wang, Zhaowen Z; Wen, Peihao P; Fan, Junwei J
Publication Date: 2021-06

Variant appearance in text: rs2291075
PubMed Link: 33386894
Variant Present in the following documents:
  • Main text
  • 228_2020_Article_3058.pdf
View BVdb publication page



Uptake Transporters of the SLC21, SLC22A, and SLC15A Families in Anticancer Therapy-Modulators of Cellular Entry or Pharmacokinetics?

Cancers
Brecht, Karin K; Schäfer, Anima Magdalena AM; Meyer Zu Schwabedissen, Henriette E HE
Publication Date: 2020-08-12

Variant appearance in text: SLCO1B1: 597C>T; rs2291075
PubMed Link: 32806706
Variant Present in the following documents:
  • Main text
  • cancers-12-02263.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: SLCO1B1: 597C>T; F199F; rs2291075
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2291075
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Diversity in Drug Transporters: Impact in African Populations.

Clinical And Translational Science
Rajman, Iris I; Knapp, Laura L; Hanna, Imad I
Publication Date: 2020-09

Variant appearance in text: SLCO1B1: 597C>T
PubMed Link: 32100958
Variant Present in the following documents:
  • Main text
  • CTS-13-848.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: SLCO1B1: 597C>T; Phe199=; rs2291075
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_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: SLCO1B1: F199F; rs2291075
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Evaluation of the impact of single-nucleotide polymorphisms on treatment response, survival and toxicity with cytarabine and anthracyclines in patients with acute myeloid leukaemia: a systematic review protocol.

Systematic Reviews
Puty, Taynah Cascaes TC; Sarraf, Jonathan Souza JS; Do Carmo Almeida, Tabata Cristina TC; Filho, Valter Cordeiro Barbosa VCB; de Carvalho, Luis Eduardo Werneck LEW; Fonseca, Fernando Luiz Affonso FLA; Adami, Fernando F
Publication Date: 2019-05-03

Variant appearance in text: rs2291075
PubMed Link: 31053175
Variant Present in the following documents:
  • Main text
  • 13643_2019_Article_1011.pdf
View BVdb publication page



Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy.

Environment International
Gao, Shangzhi S; Mostofa, Md Golam MG; Quamruzzaman, Quazi Q; Rahman, Mahmudur M; Rahman, Mohammad M; Su, Li L; Hsueh, Yu-Mei YM; Weisskopf, Marc M; Coull, Brent B; Christiani, David C DC
Publication Date: 2019-04

Variant appearance in text: rs2291075
PubMed Link: 30703610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2291075
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: SLCO1B1: 597C>T; rs2291075
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs2291075
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: SLCO1B1: 597C>T; F199F
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: SLCO1B1: 597C>T; F199F; rs2291075
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Transporter Expression in Noncancerous and Cancerous Liver Tissue from Donors with Hepatocellular Carcinoma and Chronic Hepatitis C Infection Quantified by LC-MS/MS Proteomics.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Billington, Sarah S; Ray, Adrian S AS; Salphati, Laurent L; Xiao, Guangqing G; Chu, Xiaoyan X; Humphreys, W Griffith WG; Liao, Mingxiang M; Lee, Caroline A CA; Mathias, Anita A; Hop, Cornelis E C A CECA; Rowbottom, Christopher C; Evers, Raymond R; Lai, Yurong Y; Kelly, Edward J EJ; Prasad, Bhagwat B; Unadkat, Jashvant D JD
Publication Date: 2018-02

Variant appearance in text: rs2291075
PubMed Link: 29138286
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: rs2291075
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Oncotarget
Di Martino, Maria Teresa MT; Scionti, Francesca F; Sestito, Simona S; Nicoletti, Angela A; Arbitrio, Mariamena M; Hiram Guzzi, Pietro P; Talarico, Valentina V; Altomare, Federica F; Sanseviero, Maria Teresa MT; Agapito, Giuseppe G; Pisani, Antonio A; Riccio, Eleonora E; Borrelli, Osvaldo O; Concolino, Daniela D; Pensabene, Licia L
Publication Date: 2016-12-27

Variant appearance in text: rs2291075
PubMed Link: 27825144
Variant Present in the following documents:
  • Main text
  • oncotarget-07-85895.pdf
View BVdb publication page



Transporter Expression in Liver Tissue from Subjects with Alcoholic or Hepatitis C Cirrhosis Quantified by Targeted Quantitative Proteomics.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Wang, Li L; Collins, Carol C; Kelly, Edward J EJ; Chu, Xiaoyan X; Ray, Adrian S AS; Salphati, Laurent L; Xiao, Guangqing G; Lee, Caroline C; Lai, Yurong Y; Liao, Mingxiang M; Mathias, Anita A; Evers, Raymond R; Humphreys, William W; Hop, Cornelis E C A CE; Kumer, Sean C SC; Unadkat, Jashvant D JD
Publication Date: 2016-11

Variant appearance in text: OATP1B1: F199F; rs2291075
PubMed Link: 27543206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Publication Date: 2016-07

Variant appearance in text: rs2291075
PubMed Link: 27437086
Variant Present in the following documents:
  • Main text
View BVdb publication page



DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.

Oncotarget
Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
Publication Date: 2016-08-16

Variant appearance in text: SLCO1B1: 597C>T; rs2291075
PubMed Link: 27304055
Variant Present in the following documents:
  • Main text
  • oncotarget-07-54028.pdf
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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: SLCO1B1: F199F
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

Balkan Journal Of Medical Genetics : Bjmg
Grapci, A Daka AD; Dimovski, A J AJ; Kapedanovska, A A; Vavlukis, M M; Eftimov, A A; Geshkovska, N Matevska NM; Labachevski, N N; Jakjovski, K K; Gorani, D D; Kedev, S S; Mladenovska, K K
Publication Date: 2015-06

Variant appearance in text: SLCO1B1: 597C>T; Phe199Phe; rs2291075
PubMed Link: 26929901
Variant Present in the following documents:
  • Main text
  • bjmg-18-01-05.pdf
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Inherited variation in OATP1B1 is associated with treatment outcome in acute myeloid leukemia.

Clinical Pharmacology And Therapeutics
Drenberg, C D CD; Paugh, S W SW; Pounds, S B SB; Shi, L L; Orwick, S J SJ; Li, L L; Hu, S S; Gibson, A A AA; Ribeiro, R C RC; Rubnitz, J E JE; Evans, W E WE; Sparreboom, A A; Baker, S D SD
Publication Date: 2016-06

Variant appearance in text: SLCO1B1: 597C>T; F199F; rs2291075
PubMed Link: 26663398
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: SLCO1B1: 597C>T
PubMed Link: 26621101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption.

Plos One
Bergen, Andrew W AW; Michel, Martha M; Nishita, Denise D; Krasnow, Ruth R; Javitz, Harold S HS; Conneely, Karen N KN; Lessov-Schlaggar, Christina N CN; Hops, Hyman H; Zhu, Andy Z X AZ; Baurley, James W JW; McClure, Jennifer B JB; Hall, Sharon M SM; Baker, Timothy B TB; Conti, David V DV; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF; Swan, Gary E GE; ,
Publication Date: 2015

Variant appearance in text: rs2291075
PubMed Link: 26132489
Variant Present in the following documents:
  • Main text
  • pone.0126113.pdf
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: SLCO1B1: F199F; rs2291075
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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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: rs2291075
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page