SLC22A1 c.480G>A ;(p.L160=)

Variant ID: 6-160551204-G-A

NM_003057.2(SLC22A1):c.480G>A;(p.L160=)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


Personalized Dose of Adjuvant Imatinib in Patients with Gastrointestinal Stromal Tumors: Results from a Population Pharmacokinetic Analysis.

Drug Design, Development And Therapy
Jiang, Xuehui X; Fu, Qun Q; Jing, Yan Y; Kong, Ying Y; Liu, Hong H; Peng, Hongwei H; Rexiti, Kaisaner K; Wei, Xiaohua X
Publication Date: 2023

Variant appearance in text: rs683369
PubMed Link: 36942304
Variant Present in the following documents:
  • Main text
  • dddt-17-809.pdf
View BVdb publication page



Personalized Medicine in Infant Population with Cancer: Pharmacogenetic Pilot Study of Polymorphisms Related to Toxicity and Response to Chemotherapy.

Cancers
Urtasun, Andrea A; Olivera, Gladys G GG; Sendra, Luis L; Aliño, Salvador F SF; Berlanga, Pablo P; Gargallo, Pablo P; Hervás, David D; Balaguer, Julia J; Juan-Ribelles, Antonio A; Andrés, María Del Mar MDM; Cañete, Adela A; Herrero, María José MJ
Publication Date: 2023-02-23

Variant appearance in text: rs683369
PubMed Link: 36900216
Variant Present in the following documents:
  • cancers-15-01424.pdf
View BVdb publication page



Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients.

Journal Of Clinical Medicine
Estrada, Natalia N; Zamora, Lurdes L; Ferrer-Marín, Francisca F; Palomo, Laura L; García, Olga O; Vélez, Patricia P; De la Fuente, Iris I; Sagüés, Miguel M; Cabezón, Marta M; Cortés, Montserrat M; Vallansot, Rolando Omar RO; Senín-Magán, María Alicia MA; Boqué, Concepción C; Xicoy, Blanca B
Publication Date: 2022-10-21

Variant appearance in text: rs683369
PubMed Link: 36294538
Variant Present in the following documents:
  • Main text
  • jcm-11-06217.pdf
View BVdb publication page



An update of polycystic ovary syndrome: causes and therapeutics options.

Heliyon
Rababa'h, Abeer M AM; Matani, Bayan R BR; Yehya, Alaa A
Publication Date: 2022-10

Variant appearance in text: rs683369
PubMed Link: 36267367
Variant Present in the following documents:
  • Main text
  • main.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: SLC22A1: L160L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Impact of genetic polymorphisms of drug transporters ABCB1 and ABCG2 and regulators of xenobiotic transport and metabolism PXR and CAR on clinical efficacy of dasatinib in chronic myeloid leukemia.

Frontiers In Oncology
Madejczyk, Anna Marta AM; Canzian, Federico F; Góra-Tybor, Joanna J; Campa, Daniele D; Sacha, Tomasz T; Link-Lenczowska, Dorota D; Florek, Izabela I; Prejzner, Witold W; Całbecka, M M; Rymko, M M; Dudziński, M M; Orzechowska, Magdalena Julita MJ; Jamroziak, Krzysztof K
Publication Date: 2022

Variant appearance in text: rs683369
PubMed Link: 36212403
Variant Present in the following documents:
  • Main text
  • fonc-12-952640.pdf
View BVdb publication page



Genetic Variants of ABC and SLC Transporter Genes and Chronic Myeloid Leukaemia: Impact on Susceptibility and Prognosis.

International Journal Of Molecular Sciences
Alves, Raquel R; Gonçalves, Ana Cristina AC; Jorge, Joana J; Marques, Gilberto G; Ribeiro, André B AB; Tenreiro, Rita R; Coucelo, Margarida M; Diamond, Joana J; Oliveiros, Bárbara B; Pereira, Amélia A; Freitas-Tavares, Paulo P; Almeida, António M AM; Sarmento-Ribeiro, Ana Bela AB
Publication Date: 2022-08-29

Variant appearance in text: rs683369
PubMed Link: 36077209
Variant Present in the following documents:
  • Main text
  • ijms-23-09815.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: SLC22A1: L160L
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.

Metabolites
König, Eva E; Rainer, Johannes J; Hernandes, Vinicius Verri VV; Paglia, Giuseppe G; Del Greco M, Fabiola F; Bottigliengo, Daniele D; Yin, Xianyong X; Chan, Lap Sum LS; Teumer, Alexander A; Pramstaller, Peter P PP; Locke, Adam E AE; Fuchsberger, Christian C
Publication Date: 2022-06-29

Variant appearance in text: rs683369
PubMed Link: 35888728
Variant Present in the following documents:
  • metabolites-12-00604.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: rs683369
PubMed Link: 35846994
Variant Present in the following documents:
  • fphar-13-931531.pdf
View BVdb publication page



Resistance to Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia-From Molecular Mechanisms to Clinical Relevance.

Cancers
Alves, Raquel R; Gonçalves, Ana Cristina AC; Rutella, Sergio S; Almeida, António M AM; De Las Rivas, Javier J; Trougakos, Ioannis P IP; Sarmento Ribeiro, Ana Bela AB
Publication Date: 2021-09-26

Variant appearance in text: rs683369
PubMed Link: 34638304
Variant Present in the following documents:
  • Main text
  • cancers-13-04820.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: rs683369
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Pharmacogenomics of Impaired Tyrosine Kinase Inhibitor Response: Lessons Learned From Chronic Myelogenous Leukemia.

Frontiers In Pharmacology
Kaehler, Meike M; Cascorbi, Ingolf I
Publication Date: 2021

Variant appearance in text: rs683369
PubMed Link: 34262462
Variant Present in the following documents:
  • Main text
  • fphar-12-696960.pdf
View BVdb publication page



Pharmacogenomics of Medication-Induced Weight Gain and Antiobesity Medications.

Obesity (Silver Spring, Md.)
Singh, Sneha S; Ricardo-Silgado, Maria L ML; Bielinski, Suzette J SJ; Acosta, Andres A
Publication Date: 2021-02

Variant appearance in text: rs683369
PubMed Link: 33491309
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improvement Effect of Metformin on Female and Male Reproduction in Endocrine Pathologies and Its Mechanisms.

Pharmaceuticals (Basel, Switzerland)
Shpakov, Alexander O AO
Publication Date: 2021-01-08

Variant appearance in text: rs683369
PubMed Link: 33429918
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00042.pdf
View BVdb publication page



Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.

Frontiers In Endocrinology
Yumiceba, Verónica V; López-Cortés, Andrés A; Pérez-Villa, Andy A; Yumiseba, Iván I; Guerrero, Santiago S; García-Cárdenas, Jennyfer M JM; Armendáriz-Castillo, Isaac I; Guevara-Ramírez, Patricia P; Leone, Paola E PE; Zambrano, Ana Karina AK; Paz-Y-Miño, César C
Publication Date: 2020

Variant appearance in text: rs683369
PubMed Link: 33329391
Variant Present in the following documents:
  • Main text
  • fendo-11-585130.pdf
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: rs683369
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: rs683369
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association Study of Puberty-Related Candidate Genes in Chinese Female Population.

International Journal Of Genomics
Omariba, Gideon G; Xiao, Junhua J
Publication Date: 2020

Variant appearance in text: rs683369
PubMed Link: 32566640
Variant Present in the following documents:
  • Main text
  • IJG2020-1426761.pdf
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: rs683369
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacology of tyrosine kinase inhibitors in chronic myeloid leukemia; a clinician's perspective.

Daru : Journal Of Faculty Of Pharmacy, Tehran University Of Medical Sciences
Pushpam, Deepam D; Bakhshi, Sameer S
Publication Date: 2020-06

Variant appearance in text: rs683369
PubMed Link: 31900888
Variant Present in the following documents:
  • Main text
View BVdb publication page



When drug treatments bias genetic studies: Mediation and interaction.

Plos One
Schmidt, Amand F AF; Heerspink, Hiddo J L HJL; Denig, Petra P; Finan, Chris C; Groenwold, Rolf H H RHH
Publication Date: 2019

Variant appearance in text: rs683369
PubMed Link: 31461463
Variant Present in the following documents:
  • pone.0221209.s001.pdf
View BVdb publication page



Association between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome.

International Journal Of Molecular Sciences
Chang, Hui Hua HH; Hsueh, Yuan-Shuo YS; Cheng, Yung Wen YW; Ou, Huang-Tz HT; Wu, Meng-Hsing MH
Publication Date: 2019-04-07

Variant appearance in text: rs683369
PubMed Link: 30959948
Variant Present in the following documents:
  • Main text
  • ijms-20-01720.pdf
View BVdb publication page



Metformin Pharmacogenetics: Effects of SLC22A1, SLC22A2, and SLC22A3 Polymorphisms on Glycemic Control and HbA1c Levels.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Almomani, Basima A BA; Nassar, Ahmad M AM; Elsaqa, Barakat Z BZ; Saadeh, Nesreen A NA
Publication Date: 2019-03-25

Variant appearance in text: rs683369
PubMed Link: 30934600
Variant Present in the following documents:
  • Main text
  • jpm-09-00017.pdf
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: rs683369
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



The significance of enzyme and transporter polymorphisms for imatinib plasma levels and achieving an optimal response in chronic myeloid leukemia patients.

Archives Of Medical Science : Ams
Belohlavkova, Petra P; Vrbacky, Filip F; Voglova, Jaroslava J; Racil, Zdenek Z; Zackova, Daniela D; Hrochova, Katerina K; Malakova, Jana J; Mayer, Jiri J; Zak, Pavel P
Publication Date: 2018-10

Variant appearance in text: rs683369
PubMed Link: 30393497
Variant Present in the following documents:
  • Main text
  • AMS-14-31830.pdf
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: rs683369
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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: rs683369
PubMed Link: 29979413
Variant Present in the following documents:
  • medi-97-e11349.pdf
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: rs683369
PubMed Link: 29659562
Variant Present in the following documents:
  • Main text
View BVdb publication page



The hOCT1 and ABCB1 polymorphisms do not influence the pharmacodynamics of nilotinib in chronic myeloid leukemia.

Oncotarget
Galimberti, Sara S; Bucelli, Cristina C; Arrigoni, Elena E; Baratè, Claudia C; Grassi, Susanna S; Ricci, Federica F; Guerrini, Francesca F; Ciabatti, Elena E; Fava, Carmen C; D'Avolio, Antonio A; Fontanelli, Giulia G; Cambrin, Giovanna Rege GR; Isidori, Alessandro A; Loscocco, Federica F; Caocci, Giovanni G; Greco, Marianna M; Bocchia, Monica M; Aprile, Lara L; Gozzini, Antonella A; Scappini, Barbara B; Cattaneo, Daniele D; Scortechini, Anna Rita AR; La Nasa, Giorgio G; Bosi, Alberto A; Leoni, Pietro P; Danesi, Romano R; Saglio, Giuseppe G; Visani, Giuseppe G; Cortelezzi, Agostino A; Petrini, Mario M; Iurlo, Alessandra A; Di Paolo, Antonello A
Publication Date: 2017-10-20

Variant appearance in text: rs683369
PubMed Link: 29152138
Variant Present in the following documents:
  • Main text
  • oncotarget-08-88021.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs683369
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment.

Journal Of Experimental & Clinical Cancer Research : Cr
Jaruskova, Monika M; Curik, Nikola N; Hercog, Rajna R; Polivkova, Vaclava V; Motlova, Eliska E; Benes, Vladimir V; Klamova, Hana H; Pecherkova, Pavla P; Belohlavkova, Petra P; Vrbacky, Filip F; Machova Polakova, Katerina K
Publication Date: 2017-04-18

Variant appearance in text: rs683369
PubMed Link: 28420426
Variant Present in the following documents:
  • Main text
View BVdb publication page



Harnessing Solute Carrier Transporters for Precision Oncology.

Molecules (Basel, Switzerland)
Nyquist, Michael D MD; Prasad, Bhagwat B; Mostaghel, Elahe A EA
Publication Date: 2017-03-28

Variant appearance in text: rs683369
PubMed Link: 28350329
Variant Present in the following documents:
  • Main text
  • molecules-22-00539.pdf
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: rs683369
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Genotypes Affecting the Pharmacokinetics of Anticancer Drugs.

Clinical Pharmacokinetics
Bertholee, Daphne D; Maring, Jan Gerard JG; van Kuilenburg, André B P AB
Publication Date: 2017-04

Variant appearance in text: rs683369
PubMed Link: 27641154
Variant Present in the following documents:
  • Main text
  • 40262_2016_Article_450.pdf
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: rs683369
PubMed Link: 27445813
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole Exome Sequencing of Chronic Myeloid Leukemia Patients.

Iranian Journal Of Public Health
Sabri, Shaghayegh S; Keyhani, Manouchehr M; Akbari, Mohammad Taghi MT
Publication Date: 2016-03

Variant appearance in text: rs683369
PubMed Link: 27141497
Variant Present in the following documents:
  • Main text
  • IJPH-45-346.pdf
View BVdb publication page



Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.

Neuropsychiatric Disease And Treatment
Medhasi, Sadeep S; Pasomsub, Ekawat E; Vanwong, Natchaya N; Ngamsamut, Nattawat N; Puangpetch, Apichaya A; Chamnanphon, Montri M; Hongkaew, Yaowaluck Y; Limsila, Penkhae P; Pinthong, Darawan D; Sukasem, Chonlaphat C
Publication Date: 2016

Variant appearance in text: rs683369
PubMed Link: 27110117
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impacts of SLC22A1 rs594709 and SLC47A1 rs2289669 Polymorphisms on Metformin Therapeutic Efficacy in Chinese Type 2 Diabetes Patients.

International Journal Of Endocrinology
Xiao, Di D; Guo, Yu Y; Li, Xi X; Yin, Ji-Ye JY; Zheng, Wei W; Qiu, Xin-Wen XW; Xiao, Ling L; Liu, Rang-Ru RR; Wang, Sai-Ying SY; Gong, Wei-Jing WJ; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ
Publication Date: 2016

Variant appearance in text: rs683369
PubMed Link: 26977146
Variant Present in the following documents:
  • Main text
  • IJE2016-4350712.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: rs683369
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Prediction and validation of enzyme and transporter off-targets for metformin.

Journal Of Pharmacokinetics And Pharmacodynamics
Yee, Sook Wah SW; Lin, Lawrence L; Merski, Matthew M; Keiser, Michael J MJ; Gupta, Aakash A; Zhang, Youcai Y; Chien, Huan-Chieh HC; Shoichet, Brian K BK; Giacomini, Kathleen M KM
Publication Date: 2015-10

Variant appearance in text: rs683369
PubMed Link: 26335661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.

International Journal Of Molecular Sciences
Ravegnini, Gloria G; Nannini, Margherita M; Sammarini, Giulia G; Astolfi, Annalisa A; Biasco, Guido G; Pantaleo, Maria A MA; Hrelia, Patrizia P; Angelini, Sabrina S
Publication Date: 2015-07-09

Variant appearance in text: rs683369
PubMed Link: 26184165
Variant Present in the following documents:
  • Main text
  • ijms-16-15592.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs683369
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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: rs683369
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
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: rs683369
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



PharmGKB summary: very important pharmacogene information for SLC22A1.

Pharmacogenetics And Genomics
Goswami, Srijib S; Gong, Li L; Giacomini, Kathleen K; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2014-06

Variant appearance in text: rs683369
PubMed Link: 24681965
Variant Present in the following documents:
  • Main text
View BVdb publication page



The pharmacogenetics of type 2 diabetes: a systematic review.

Diabetes Care
Maruthur, Nisa M NM; Gribble, Matthew O MO; Bennett, Wendy L WL; Bolen, Shari S; Wilson, Lisa M LM; Balakrishnan, Poojitha P; Sahu, Anita A; Bass, Eric E; Kao, W H Linda WH; Clark, Jeanne M JM
Publication Date: 2014

Variant appearance in text: rs683369
PubMed Link: 24558078
Variant Present in the following documents:
  • Main text
  • 876.pdf
  • supp_37.3.876v131276_DC131276SupplementaryData1.pdf
View BVdb publication page