SLC22A1 c.262T>C ;(p.C88R)

Variant ID: 6-160543229-T-C

NM_003057.2(SLC22A1):c.262T>C;(p.C88R)

This variant was identified in 55 publications

View GRCh38 version.




Publications:


A Review of the Impact of Pharmacogenetics and Metabolomics on the Efficacy of Metformin in Type 2 Diabetes.

International Journal Of Medical Sciences
Damanhouri, Zoheir A ZA; Alkreathy, Huda M HM; Alharbi, Fawaz A FA; Abualhamail, Haneen H; Ahmad, Muhammad S MS
Publication Date: 2023

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 36619226
Variant Present in the following documents:
  • ijmsv20p0142.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: SLC22A1: 262T>C; Cys88Arg; rs55918055
PubMed Link: 35846994
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach.

Global Medical Genetics
Rizvi, Aliya A AA; Abbas, Mohammad M; Verma, Sushma S; Verma, Shrikant S; Khan, Almas A; Raza, Syed T ST; Mahdi, Farzana F
Publication Date: 2022-06

Variant appearance in text: SLC22A1: Cys88Arg; rs55918055
PubMed Link: 35707783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)
Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG
Publication Date: 2019

Variant appearance in text: SLC22A1: 262T>C; Cys88Arg
PubMed Link: 35582588
Variant Present in the following documents:
  • Main text
  • cdr-2-680.pdf
View BVdb publication page



Pharmacogenetics in Primary Headache Disorders.

Frontiers In Pharmacology
Belyaeva, Irina I II; Subbotina, Anna G AG; Eremenko, Ivan I II; Tarasov, Vadim V VV; Chubarev, Vladimir N VN; Schiöth, Helgi B HB; Mwinyi, Jessica J
Publication Date: 2021

Variant appearance in text: SLC22A1: Cys88Arg; rs55918055
PubMed Link: 35222013
Variant Present in the following documents:
  • Main text
  • fphar-12-820214.pdf
View BVdb publication page



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: SLC22A1: C88R; rs55918055
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
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: SLC22A1: 262T>C; C88R; rs55918055
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Genetic Heterogeneity, Therapeutic Hurdle Confronting Sorafenib and Immune Checkpoint Inhibitors in Hepatocellular Carcinoma.

Cancers
Atwa, Sara M SM; Odenthal, Margarete M; El Tayebi, Hend M HM
Publication Date: 2021-08-27

Variant appearance in text: SLC22A1: 262T>C
PubMed Link: 34503153
Variant Present in the following documents:
  • Main text
  • cancers-13-04343.pdf
View BVdb publication page



Genetic Heterogeneity, Therapeutic Hurdle Confronting Sorafenib and Immune Checkpoint Inhibitors in Hepatocellular Carcinoma.

Cancers
Atwa, Sara M SM; Odenthal, Margarete M; M El Tayebi, Hend H
Publication Date: 2021-08-27

Variant appearance in text: SLC22A1: 262T>C
PubMed Link: 34503153
Variant Present in the following documents:
  • Main text
  • cancers-13-04343.pdf
View BVdb publication page



The Genetics of Adverse Drug Outcomes in Type 2 Diabetes: A Systematic Review.

Frontiers In Genetics
Baye, Assefa M AM; Fanta, Teferi G TG; Siddiqui, Moneeza K MK; Dawed, Adem Y AY
Publication Date: 2021

Variant appearance in text: SLC22A1: C88R
PubMed Link: 34194474
Variant Present in the following documents:
  • Main text
  • fgene-12-675053.pdf
View BVdb publication page



Effects of Genetic Polymorphism in CYP2D6, CYP2C19, and the Organic Cation Transporter OCT1 on Amitriptyline Pharmacokinetics in Healthy Volunteers and Depressive Disorder Patients.

Frontiers In Pharmacology
Matthaei, Johannes J; Brockmöller, Jürgen J; Steimer, Werner W; Pischa, Konstanze K; Leucht, Stefan S; Kullmann, Maria M; Jensen, Ole O; Ouethy, Typhaine T; Tzvetkov, Mladen Vassilev MV; Rafehi, Muhammad M
Publication Date: 2021

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 34093211
Variant Present in the following documents:
  • Main text
  • fphar-12-688950.pdf
View BVdb publication page



Isobutyrylcarnitine as a Biomarker of OCT1 Activity and Interspecies Differences in its Membrane Transport.

Frontiers In Pharmacology
Jensen, Ole O; Matthaei, Johannes J; Klemp, Henry G HG; Meyer, Marleen J MJ; Brockmöller, Jürgen J; Tzvetkov, Mladen V MV
Publication Date: 2021

Variant appearance in text: SLC22A1: Cys88Arg; rs55918055
PubMed Link: 34040533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1.

Frontiers In Pharmacology
Römer, Sarah S; Meyer, Marleen J MJ; Klein, Kathrin K; Schneider, Lennart V LV; Matthaei, Johannes J; Tzvetkova, Ana A; Łapczuk-Romańska, Joanna J; Gaedcke, Jochen J; Droździk, Marek M; Brockmöller, Jürgen J; Nies, Anne T AT; Tzvetkov, Mladen V MV
Publication Date: 2021

Variant appearance in text: SLC22A1: Cys88Arg
PubMed Link: 34025422
Variant Present in the following documents:
  • Main text
  • fphar-12-661480.pdf
View BVdb publication page



Cellular Uptake of Psychostimulants - Are High- and Low-Affinity Organic Cation Transporters Drug Traffickers?

Frontiers In Pharmacology
Jensen, Ole O; Rafehi, Muhammad M; Gebauer, Lukas L; Brockmöller, Jürgen J
Publication Date: 2020

Variant appearance in text: SLC22A1: C88R
PubMed Link: 33551812
Variant Present in the following documents:
  • Main text
  • fphar-11-609811.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: SLC22A1: C88R; rs55918055
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



The Impact of Genetic Polymorphisms in Organic Cation Transporters on Renal Drug Disposition.

International Journal Of Molecular Sciences
Zazuli, Zulfan Z; Duin, Naut J C B NJCB; Jansen, Katja K; Vijverberg, Susanne J H SJH; Maitland-van der Zee, Anke H AH; Masereeuw, Rosalinde R
Publication Date: 2020-09-10

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 32927790
Variant Present in the following documents:
  • Main text
  • ijms-21-06627.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: SLC22A1: 262T>C; C88R; rs55918055
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Sorafenib Resistance in Hepatocellular Carcinoma: The Relevance of Genetic Heterogeneity.

Cancers
Cabral, Loraine Kay D LKD; Tiribelli, Claudio C; Sukowati, Caecilia H C CHC
Publication Date: 2020-06-15

Variant appearance in text: SLC22A1: C88R
PubMed Link: 32549224
Variant Present in the following documents:
  • Main text
  • cancers-12-01576.pdf
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: SLC22A1: C88R
PubMed Link: 32100958
Variant Present in the following documents:
  • Main text
  • CTS-13-848.pdf
View BVdb publication page



Highly Variable Pharmacokinetics of Tyramine in Humans and Polymorphisms in OCT1, CYP2D6, and MAO-A.

Frontiers In Pharmacology
Rafehi, Muhammad M; Faltraco, Frank F; Matthaei, Johannes J; Prukop, Thomas T; Jensen, Ole O; Grytzmann, Aileen A; Blome, Felix G FG; Berger, Ralf Günter RG; Krings, Ulrich U; Vormfelde, Stefan V SV; Tzvetkov, Mladen V MV; Brockmöller, Jürgen J
Publication Date: 2019

Variant appearance in text: rs55918055
PubMed Link: 31736764
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Human Genetics
Schaller, Lena L; Lauschke, Volker M VM
Publication Date: 2019-12

Variant appearance in text: SLC22A1: C88R
PubMed Link: 31679053
Variant Present in the following documents:
  • 439_2019_Article_2081.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: SLC22A1: C88R; rs55918055
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Genetic polymorphisms of organic cation transporter 1 (OCT1) and responses to metformin therapy in individuals with type 2 diabetes: A systematic review.

Medicine
Mofo Mato, Edith Pascale EP; Guewo-Fokeng, Magellan M; Essop, M Faadiel MF; Owira, Peter Mark Oroma PMO
Publication Date: 2018-07

Variant appearance in text: SLC22A1: Cys88Arg; rs55918055
PubMed Link: 29979413
Variant Present in the following documents:
  • Main text
  • medi-97-e11349.pdf
View BVdb publication page



Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A
Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM
Publication Date: 2018-05

Variant appearance in text: rs55918055
PubMed Link: 29681089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of Transporter Polymorphisms on Drug Disposition and Response: A Perspective From the International Transporter Consortium.

Clinical Pharmacology And Therapeutics
Yee, Sook Wah SW; Brackman, Deanna J DJ; Ennis, Elizabeth A EA; Sugiyama, Yuichi Y; Kamdem, Landry K LK; Blanchard, Rebecca R; Galetin, Aleksandra A; Zhang, Lei L; Giacomini, Kathleen M KM
Publication Date: 2018-11

Variant appearance in text: SLC22A1: Cys88Arg
PubMed Link: 29679469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content.

Plos Biology
Liang, Xiaomin X; Yee, Sook Wah SW; Chien, Huan-Chieh HC; Chen, Eugene C EC; Luo, Qi Q; Zou, Ling L; Piao, Meiling M; Mifune, Arias A; Chen, Ligong L; Calvert, Meredith E ME; King, Sarah S; Norheim, Frode F; Abad, Janna J; Krauss, Ronald M RM; Giacomini, Kathleen M KM
Publication Date: 2018-04

Variant appearance in text: SLC22A1: C88R
PubMed Link: 29659562
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Journal Of Personalized Medicine
Lozano, Elisa E; Briz, Oscar O; Macias, Rocio I R RIR; Serrano, Maria A MA; Marin, Jose J G JJG; Herraez, Elisa E
Publication Date: 2018-04-16

Variant appearance in text: SLC22A1: C88R
PubMed Link: 29659532
Variant Present in the following documents:
  • Main text
  • jpm-08-00014.pdf
View BVdb publication page



Molecular characterization of breast cancer cell response to metabolic drugs.

Oncotarget
Trilla-Fuertes, Lucía L; Gámez-Pozo, Angelo A; Arevalillo, Jorge M JM; Díaz-Almirón, Mariana M; Prado-Vázquez, Guillermo G; Zapater-Moros, Andrea A; Navarro, Hilario H; Aras-López, Rosa R; Dapía, Irene I; López-Vacas, Rocío R; Nanni, Paolo P; Llorente-Armijo, Sara S; Arias, Pedro P; Borobia, Alberto M AM; Maín, Paloma P; Feliú, Jaime J; Espinosa, Enrique E; Fresno Vara, Juan Ángel JÁ
Publication Date: 2018-02-09

Variant appearance in text: rs55918055
PubMed Link: 29515760
Variant Present in the following documents:
  • Main text
  • oncotarget-09-9645.pdf
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



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: rs55918055
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Effects of genetic polymorphisms on the OCT1 and OCT2-mediated uptake of ranitidine.

Plos One
Meyer, Marleen Julia MJ; Seitz, Tina T; Brockmöller, Jürgen J; Tzvetkov, Mladen Vassilev MV
Publication Date: 2017

Variant appearance in text: SLC22A1: Cys88Arg
PubMed Link: 29236753
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science
Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ
Publication Date: 2018-03

Variant appearance in text: rs55918055
PubMed Link: 29193749
Variant Present in the following documents:
  • Main text
  • CTS-11-189.pdf
View BVdb publication page



The pharmacogenetics of metformin.

Diabetologia
Florez, Jose C JC
Publication Date: 2017-09

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 28770331
Variant Present in the following documents:
  • Main text
View BVdb publication page



OCT1 genetic variants are associated with postoperative morphine-related adverse effects in children.

Pharmacogenomics
Balyan, Rajiv R; Zhang, Xue X; Chidambaran, Vidya V; Martin, Lisa J LJ; Mizuno, Tomoyuki T; Fukuda, Tsuyoshi T; Vinks, Alexander A AA; Sadhasivam, Senthilkumar S
Publication Date: 2017-05

Variant appearance in text: SLC22A1: Cys88Arg; rs55918055
PubMed Link: 28470102
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: SLC22A1: C88R; rs55918055
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
  • fpc-27-089-s004.xlsx, sheet 2
View BVdb publication page



Rare deleterious mutations are associated with disease in bipolar disorder families.

Molecular Psychiatry
Rao, A R AR; Yourshaw, M M; Christensen, B B; Nelson, S F SF; Kerner, B B
Publication Date: 2017-07

Variant appearance in text: rs55918055
PubMed Link: 27725659
Variant Present in the following documents:
  • Main text
  • nihms807677.pdf
View BVdb publication page



Effect of Serotonin Transporter 5-HTTLPR Polymorphism on Gastrointestinal Intolerance to Metformin: A GoDARTS Study.

Diabetes Care
Dujic, Tanja T; Zhou, Kaixin K; Tavendale, Roger R; Palmer, Colin N A CN; Pearson, Ewan R ER
Publication Date: 2016-11

Variant appearance in text: SLC22A1: C88R
PubMed Link: 27493135
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SLC22A1: 262T>C; C88R; rs55918055
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Role of Human Organic Cation Transporter 1 (hOCT1) Polymorphisms in Lamivudine (3TC) Uptake and Drug-Drug Interactions.

Frontiers In Pharmacology
Arimany-Nardi, Cristina C; Minuesa, Gerard G; Keller, Thorsten T; Erkizia, Itziar I; Koepsell, Hermann H; Martinez-Picado, Javier J; Pastor-Anglada, Marçal M
Publication Date: 2016

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 27445813
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: SLC22A1: C88R
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics in type 2 diabetes: influence on response to oral hypoglycemic agents.

Pharmacogenomics And Personalized Medicine
Dawed, Adem Yesuf AY; Zhou, Kaixin K; Pearson, Ewan Robert ER
Publication Date: 2016

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 27103840
Variant Present in the following documents:
  • Main text
  • pgpm-9-017.pdf
View BVdb publication page



Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics
Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM
Publication Date: 2016-01-19

Variant appearance in text: rs55918055
PubMed Link: 26785747
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_329.pdf
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: rs55918055
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: SLC22A1: C88R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1.

Genome Medicine
Seitz, Tina T; Stalmann, Robert R; Dalila, Nawar N; Chen, Jiayin J; Pojar, Sherin S; Dos Santos Pereira, Joao N JN; Krätzner, Ralph R; Brockmöller, Jürgen J; Tzvetkov, Mladen V MV
Publication Date: 2015

Variant appearance in text: SLC22A1: Cys88Arg
PubMed Link: 26157489
Variant Present in the following documents:
  • Main text
  • 13073_2015_Article_172.pdf
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: rs55918055
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Association of Organic Cation Transporter 1 With Intolerance to Metformin in Type 2 Diabetes: A GoDARTS Study.

Diabetes
Dujic, Tanja T; Zhou, Kaixin K; Donnelly, Louise A LA; Tavendale, Roger R; Palmer, Colin N A CN; Pearson, Ewan R ER
Publication Date: 2015-05

Variant appearance in text: SLC22A1: C88R; rs55918055
PubMed Link: 25510240
Variant Present in the following documents:
  • Main text
View BVdb publication page