ABCC4 c.912G>C ;(p.K304N)

Variant ID: 13-95859035-C-G

NM_005845.3(ABCC4):c.912G>C;(p.K304N)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ABCC4: K304N
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Effect of polymorphisms in drug metabolism and transportation on plasma concentration of atorvastatin and its metabolites in patients with chronic kidney disease.

Frontiers In Pharmacology
Jiang, Zebin Z; Wu, Zemin Z; Liu, Ruixue R; Du, Qin Q; Fu, Xian X; Li, Min M; Kuang, Yongjun Y; Lin, Shen S; Wu, Jiaxuan J; Xie, Weiji W; Shi, Ganggang G; Peng, Yanqiang Y; Zheng, Fuchun F
Publication Date: 2023

Variant appearance in text: rs2274407
PubMed Link: 36923356
Variant Present in the following documents:
  • Main text
  • fphar-14-1102810.pdf
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: ABCC4: K304N
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Pharmacokinetics of Tenofovir Alafenamide Fumarate and Tenofovir in the Chinese People: Effects of Non-Genetic Factors and Genetic Variations.

Pharmacogenomics And Personalized Medicine
Li, Xue X; Tan, Xin-Yi XY; Cui, Xue-Jun XJ; Yang, Ming M; Chen, Chao C; Chen, Xiao-Yun XY
Publication Date: 2021

Variant appearance in text: rs2274407
PubMed Link: 34703277
Variant Present in the following documents:
  • Main text
  • pgpm-14-1315.pdf
View BVdb publication page



Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database.

Scientific Reports
Qi, Guangzhao G; Zhang, Jingmin J; Han, Chao C; Zhou, Yubing Y; Li, Duolu D; Ma, Pengfei P
Publication Date: 2021-09-28

Variant appearance in text: N/A
PubMed Link: 34584183
Variant Present in the following documents:
View BVdb publication page



TPMT*3C as a Predictor of 6-Mercaptopurine-Induced Myelotoxicity in Thai Children with Acute Lymphoblastic Leukemia.

Journal Of Personalized Medicine
Jantararoungtong, Thawinee T; Wiwattanakul, Supaporn S; Tiyasirichokchai, Rawiporn R; Prommas, Santirhat S; Sukprasong, Rattanaporn R; Koomdee, Napatrupron N; Jinda, Pimonpan P; Rachanakul, Jiratha J; Nuntharadthanaphong, Nutthan N; Pakakasama, Samart S; Anurathapan, Usanarat U; Hongeng, Suradej S; Sukasem, Chonlaphat C
Publication Date: 2021-08-11

Variant appearance in text: rs2274407
PubMed Link: 34442427
Variant Present in the following documents:
  • Main text
  • jpm-11-00783.pdf
View BVdb publication page



Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2021

Variant appearance in text: rs2274407
PubMed Link: 34007475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Homozygous of MRP4 Gene rs1751034 C Allele Is Related to Increased Risk of Intravenous Immunoglobulin Resistance in Kawasaki Disease.

Frontiers In Genetics
Wang, Yanfei Y; Xu, Yufen Y; Huang, Ping P; Che, Di D; Wang, Zhouping Z; Huang, Xijing X; Xie, Xiaofei X; Li, Wei W; Zhang, Li L; Gu, Xiaoqiong X
Publication Date: 2021

Variant appearance in text: rs2274407
PubMed Link: 33790941
Variant Present in the following documents:
  • Main text
  • fgene-12-510350.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: rs2274407
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Biomedical Reports
Ishida, Hisashi H; Iguchi, Akihiro A; Aoe, Michinori M; Nishiuchi, Ritsuo R; Matsubara, Takehiro T; Keino, Dai D; Sanada, Masashi M; Shimada, Akira A
Publication Date: 2020-11

Variant appearance in text: rs2274407
PubMed Link: 32934818
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Implementation of Pharmacogenetics to Individualize Treatment Regimens for Children with Acute Lymphoblastic Leukemia.

Pharmacogenomics And Personalized Medicine
Maamari, Dimitri D; El-Khoury, Habib H; Saifi, Omran O; Muwakkit, Samar A SA; Zgheib, Nathalie K NK
Publication Date: 2020

Variant appearance in text: rs2274407
PubMed Link: 32848445
Variant Present in the following documents:
  • Main text
  • pgpm-13-295.pdf
View BVdb publication page



Genetics of blood malignancies among Iranian population: an overview.

Diagnostic Pathology
Ghayour-Mobarhan, Majid M; Zangouei, Amir Sadra AS; Hosseinirad, Seyed Mohammad SM; Mojarrad, Majid M; Moghbeli, Meysam M
Publication Date: 2020-05-06

Variant appearance in text: rs2274407
PubMed Link: 32375828
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_968.pdf
View BVdb publication page



Effects of various genetic polymorphisms on thiopurine treatment-associated outcomes for Korean patients with Crohn's disease.

British Journal Of Clinical Pharmacology
Choi, Rihwa R; Lee, Mi-Na MN; Kim, Kyunga K; Baek, Sun-Young SY; Kim, Tae Jun TJ; Hong, Sung Noh SN; Kim, Young-Ho YH; Lee, Soo-Youn SY
Publication Date: 2020-11

Variant appearance in text: rs2274407
PubMed Link: 32372428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Annals Of Translational Medicine
Teng, Lisha L; Zhang, Yanling Y; Ye, Luxi L; Lv, Junhao J; Mao, Youying Y; Schneider, Ronen R; Chen, Jianghua J; Jiang, Hong H; Wu, Jianyong J
Publication Date: 2020-03

Variant appearance in text: N/A
PubMed Link: 32355774
Variant Present in the following documents:
View BVdb publication page



Pharmacogene Variation in Thai Plasmodium vivax Relapse Patients Treated with a Combination of Primaquine and Chloroquine.

Pharmacogenomics And Personalized Medicine
Chamnanphon, Monpat M; Gaedigk, Andrea A; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Chantratita, Wasun W; Longley, Rhea J RJ; Sattabongkot, Jetsumon J; Chariyavilaskul, Pajaree P; Sukasem, Chonlaphat C
Publication Date: 2020

Variant appearance in text: rs2274407
PubMed Link: 32021383
Variant Present in the following documents:
  • Main text
  • pgpm-13-1.pdf
View BVdb publication page



Drug Resistance Biomarkers and Their Clinical Applications in Childhood Acute Lymphoblastic Leukemia.

Frontiers In Oncology
Aberuyi, Narges N; Rahgozar, Soheila S; Ghodousi, Elaheh Sadat ES; Ghaedi, Kamran K
Publication Date: 2019

Variant appearance in text: ABCC4: K304N; rs2274407
PubMed Link: 32010613
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

Blood
Azouzi, Slim S; Mikdar, Mahmoud M; Hermand, Patricia P; Gautier, Emilie-Fleur EF; Salnot, Virginie V; Willemetz, Alexandra A; Nicolas, Gaël G; Vrignaud, Cédric C; Raneri, Alexandre A; Mayeux, Patrick P; Bole-Feysot, Christine C; Nitschké, Patrick P; Cartron, Jean-Pierre JP; Colin, Yves Y; Hermine, Olivier O; Jedlitschky, Gabriele G; Cloutier, Marc M; Constanzo-Yanez, Jessica J; Ethier, Carole C; Robitaille, Nancy N; St-Louis, Maryse M; Le Van Kim, Caroline C; Peyrard, Thierry T
Publication Date: 2020-02-06

Variant appearance in text: N/A
PubMed Link: 31826245
Variant Present in the following documents:
View BVdb publication page



Impact of NR1I2, adenosine triphosphate-binding cassette transporters genetic polymorphisms on the pharmacokinetics of ginsenoside compound K in healthy Chinese volunteers.

Journal Of Ginseng Research
Zhou, Luping L; Chen, Lulu L; Wang, Yaqin Y; Huang, Jie J; Yang, Guoping G; Tan, Zhirong Z; Wang, Yicheng Y; Liao, Jianwei J; Zhou, Gan G; Hu, Kai K; Li, Zhenyu Z; Ouyang, Dongsheng D
Publication Date: 2019-07

Variant appearance in text: rs2274407
PubMed Link: 31308818
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs2274407
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Pathway genes and metabolites in thiopurine therapy in Korean children with acute lymphoblastic leukaemia.

British Journal Of Clinical Pharmacology
Choi, Rihwa R; Sohn, Insuk I; Kim, Min-Ji MJ; Woo, Hye In HI; Lee, Ji Won JW; Ma, Youngeun Y; Yi, Eun Sang ES; Koo, Hong Hoe HH; Lee, Soo-Youn SY
Publication Date: 2019-07

Variant appearance in text: rs2274407
PubMed Link: 30927276
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: ABCC4: K304N; rs2274407
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2274407
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: N/A
PubMed Link: 30784590
Variant Present in the following documents:
View BVdb publication page



A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance.

Cells
Tsukamoto, Megumi M; Yamashita, Miho M; Nishi, Tsuyoshi T; Nakagawa, Hiroshi H
Publication Date: 2019-01-10

Variant appearance in text: N/A
PubMed Link: 30634695
Variant Present in the following documents:
View BVdb publication page



Pharmacogenetics and pharmacokinetics of CNS penetration of efavirenz and its metabolites.

The Journal Of Antimicrobial Chemotherapy
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; van Zyl, Gert U GU; Wiesner, Lubbe L; Khoo, Saye S; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2019-03-01

Variant appearance in text: rs2274407
PubMed Link: 30535366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and validation of a prognostic multivariable model to predict insufficient clinical response to methotrexate in rheumatoid arthritis.

Plos One
de Rotte, Maurits C F J MCFJ; Pluijm, Saskia M F SMF; de Jong, Pascal H P PHP; Bulatović Ćalasan, Maja M; Wulffraat, Nico M NM; Weel, Angelique E A M AEAM; Lindemans, Jan J; Hazes, J M W JMW; de Jonge, Robert R
Publication Date: 2018

Variant appearance in text: rs2274407
PubMed Link: 30532219
Variant Present in the following documents:
  • Main text
  • pone.0208534.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: N/A
PubMed Link: 30389958
Variant Present in the following documents:
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: rs2274407
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Individual susceptibility to arsenic-induced diseases: the role of host genetics, nutritional status, and the gut microbiome.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Chi, Liang L; Gao, Bei B; Tu, Pengcheng P; Liu, Chih-Wei CW; Xue, Jingchuan J; Lai, Yunjia Y; Ru, Hongyu H; Lu, Kun K
Publication Date: 2018-02

Variant appearance in text: MRP4: K304N
PubMed Link: 29429126
Variant Present in the following documents:
  • Main text
View BVdb publication page



APEX1 Polymorphism and Mercaptopurine-Related Early Onset Neutropenia in Pediatric Acute Lymphoblastic Leukemia.

Cancer Research And Treatment
Kim, Hyery H; Seo, Heewon H; Park, Yoomi Y; Min, Byung-Joo BJ; Seo, Myung-Eui ME; Park, Kyung Duk KD; Shin, Hee Young HY; Kim, Ju Han JH; Kang, Hyoung Jin HJ
Publication Date: 2018-07

Variant appearance in text: rs2274407
PubMed Link: 28882023
Variant Present in the following documents:
  • Main text
  • crt-2017-351.pdf
View BVdb publication page



Quantitative Evaluation of Drug Resistance Profile of Cells Expressing Wild-Type or Genetic Polymorphic Variants of the Human ABC Transporter ABCC4.

International Journal Of Molecular Sciences
Tsukamoto, Megumi M; Sato, Shiori S; Satake, Kazuhiro K; Miyake, Mizuki M; Nakagawa, Hiroshi H
Publication Date: 2017-07-04

Variant appearance in text: N/A
PubMed Link: 28677646
Variant Present in the following documents:
View BVdb publication page



Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.

Gastroenterology Research And Practice
Kulecka, Maria M; Habior, Andrzej A; Paziewska, Agnieszka A; Goryca, Krzysztof K; Dąbrowska, Michalina M; Ambrozkiewicz, Filip F; Walewska-Zielecka, Bożena B; Gabriel, Andrzej A; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 28626473
Variant Present in the following documents:
View BVdb publication page



Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)
Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR
Publication Date: 2017-07

Variant appearance in text: rs2274407
PubMed Link: 28371506
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: N/A
PubMed Link: 27984508
Variant Present in the following documents:
View BVdb publication page



Pharmacokinetics and pharmacogenomics of β-lactam-induced neutropenia.

Pharmacogenomics
Hahn, Andrea A; Fukuda, Tsuyoshi T; Hahn, David D; Mizuno, Tomoyuki T; Frenck, Robert W RW; Vinks, Alexander A AA
Publication Date: 2016-04

Variant appearance in text: N/A
PubMed Link: 27045542
Variant Present in the following documents:
View BVdb publication page



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: rs2274407
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 26206375
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: rs2274407
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study.

Pediatric Rheumatology Online Journal
van Dijkhuizen, Evert Hendrik Pieter EH; Bulatović Ćalasan, Maja M; Pluijm, Saskia M F SM; de Rotte, Maurits C F J MC; Vastert, Sebastiaan J SJ; Kamphuis, Sylvia S; de Jonge, Robert R; Wulffraat, Nico M NM
Publication Date: 2015

Variant appearance in text: rs2274407
PubMed Link: 25745368
Variant Present in the following documents:
  • Main text
  • 12969_2015_Article_2.pdf
View BVdb publication page



The role of drug transporters in the kidney: lessons from tenofovir.

Frontiers In Pharmacology
Moss, Darren M DM; Neary, Megan M; Owen, Andrew A
Publication Date: 2014

Variant appearance in text: rs2274407
PubMed Link: 25426075
Variant Present in the following documents:
  • Main text
  • fphar-05-00248.pdf
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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
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: rs2274407
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs2274407
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma.

Radiology And Oncology
Goricar, Katja K; Kovac, Viljem V; Dolzan, Vita V
Publication Date: 2014-06

Variant appearance in text: N/A
PubMed Link: 24991206
Variant Present in the following documents:
View BVdb publication page



Association of ABCC2 -24C>T polymorphism with high-dose methotrexate plasma concentrations and toxicities in childhood acute lymphoblastic leukemia.

Plos One
Liu, Yan Y; Yin, You Y; Sheng, Qi Q; Lu, Xiaotong X; Wang, Fang F; Lin, Zhiyan Z; Tian, Huaiping H; Xu, Ajing A; Zhang, Jian J
Publication Date: 2014

Variant appearance in text: rs2274407
PubMed Link: 24404132
Variant Present in the following documents:
  • Main text
  • pone.0082681.pdf
View BVdb publication page



Concordance of DMET plus genotyping results with those of orthogonal genotyping methods.

Clinical Pharmacology And Therapeutics
Fernandez, C A CA; Smith, C C; Yang, W W; Lorier, R R; Crews, K R KR; Kornegay, N N; Hicks, J K JK; Stewart, C F CF; Kawedia, J D JD; Ramsey, L B LB; Liu, C C; Evans, W E WE; Relling, M V MV; Broeckel, U U
Publication Date: 2012-09

Variant appearance in text: rs2274407
PubMed Link: 22871999
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic evaluation of genetic variants in three biological pathways on patient survival in low-stage non-small cell lung cancer.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Pankratz, V Shane VS; Sun, Zhifu Z; Aakre, Jeremiah J; Li, Yan Y; Johnson, Cassandra C; Garces, Yolanda I YI; Aubry, Marie C MC; Molina, Julian R JR; Wigle, Dennis A DA; Yang, Ping P
Publication Date: 2011-09

Variant appearance in text: N/A
PubMed Link: 21792076
Variant Present in the following documents:
View BVdb publication page



PharmGKB summary: methotrexate pathway.

Pharmacogenetics And Genomics
Mikkelsen, Torben S TS; Thorn, Caroline F CF; Yang, Jun J JJ; Ulrich, Cornelia M CM; French, Deborah D; Zaza, Gianluigi G; Dunnenberger, Henry M HM; Marsh, Sharon S; McLeod, Howard L HL; Giacomini, Kathy K; Becker, Mara L ML; Gaedigk, Roger R; Leeder, James Steven JS; Kager, Leo L; Relling, Mary V MV; Evans, William W; Klein, Teri E TE; Altman, Russ B RB
Publication Date: 2011-10

Variant appearance in text: rs2274407
PubMed Link: 21317831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in drug transporters in ethnic populations.

Clinical Pharmacology And Therapeutics
Cropp, C D CD; Yee, S W SW; Giacomini, K M KM
Publication Date: 2008-09

Variant appearance in text: N/A
PubMed Link: 18528433
Variant Present in the following documents:
View BVdb publication page



The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene.

The Journal Of Pharmacology And Experimental Therapeutics
Abla, Nada N; Chinn, Leslie W LW; Nakamura, Tsutomu T; Liu, Li L; Huang, Conrad C CC; Johns, Susan J SJ; Kawamoto, Michiko M; Stryke, Doug D; Taylor, Travis R TR; Ferrin, Thomas E TE; Giacomini, Kathleen M KM; Kroetz, Deanna L DL
Publication Date: 2008-06

Variant appearance in text: N/A
PubMed Link: 18364470
Variant Present in the following documents:
View BVdb publication page