ABCC2 c.1249G>A ;(p.V417I)

Variant ID: 10-101563815-G-A

NM_000392.3(ABCC2):c.1249G>A;(p.V417I)

This variant was identified in 237 publications

View GRCh38 version.




Publications:


Genetic polymorphisms influencing deferasirox pharmacokinetics, efficacy, and adverse drug reactions: a systematic review and meta-analysis.

Frontiers In Pharmacology
Yampayon, Kittika K; Anantachoti, Puree P; Chongmelaxme, Bunchai B; Yodsurang, Varalee V
Publication Date: 2023

Variant appearance in text: rs2273697
PubMed Link: 37261288
Variant Present in the following documents:
  • Main text
  • DataSheet1.pdf
  • fphar-14-1069854.pdf
View BVdb publication page



Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans.

Pharmacogenetics And Genomics
Mateza, Somila S; Bradford, Yuki Y; Maartens, Gary G; Sokhela, Simiso S; Chandiwana, Nomathemba C NC; Venter, Willem D F WDF; Post, Frank A FA; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2023-04-24

Variant appearance in text: rs2273697
PubMed Link: 37099271
Variant Present in the following documents:
  • Main text
  • pgen-33-91.pdf
View BVdb publication page



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: ABCC2: V417I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

International Journal Of Molecular Sciences
Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Berardi, Sonia S; Vero, Vittoria V; Turco, Laura L; Seri, Marco M; Morelli, Maria Cristina MC
Publication Date: 2023-03-18

Variant appearance in text: ABCC2: 1249G>A; V417I
PubMed Link: 36982896
Variant Present in the following documents:
  • Main text
  • ijms-24-05823.pdf
View BVdb publication page



Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Hao, Qishan Q; Song, Yang Y; Fang, Qiuyun Q; Lin, Yani Y; Chen, Long L; Wang, Xiaodan X; Zhang, Ping P; Wang, Zhe Z; Gong, Xiaoyuan X; Liu, Kaiqi K; Li, Qinghua Q; Tian, Zheng Z; Wang, Min M; Wang, Jianxiang J; Mi, Yingchang Y
Publication Date: 2023-01

Variant appearance in text: rs2273697
PubMed Link: 36742186
Variant Present in the following documents:
  • Main text
  • bs9-5-32.pdf
View BVdb publication page



Association Studies in Clinical Pharmacogenetics.

Pharmaceutics
Zubiaur, Pablo P; Abad-Santos, Francisco F
Publication Date: 2022-12-29

Variant appearance in text: rs2273697
PubMed Link: 36678742
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-00113.pdf
View BVdb publication page



Polymorphic renal transporters and cisplatin's toxicity in urinary bladder cancer patients: current perspectives and future directions.

Medical Oncology (Northwood, London, England)
Selim, Mohamed S MS; Kassem, Amira B AB; El-Bassiouny, Noha A NA; Salahuddin, Ahmad A; Abu El-Ela, Raghda Y RY; Hamza, Marwa Samir MS
Publication Date: 2023-01-17

Variant appearance in text: rs2273697
PubMed Link: 36650399
Variant Present in the following documents:
  • Main text
  • 12032_2022_Article_1928.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ABCC2: V417I; rs2273697
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

International Journal Of Molecular Sciences
Kim, Ji-Hoon JH; Kang, Min-Woo MW; Kim, Sangmi S; Han, Ji Won JW; Jang, Jeong Won JW; Choi, Jong Young JY; Yoon, Seung Kew SK; Sung, Pil Soo PS
Publication Date: 2022-12-18

Variant appearance in text: ABCC2: V417I
PubMed Link: 36555809
Variant Present in the following documents:
  • Main text
  • ijms-23-16168.pdf
View BVdb publication page



Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer
Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH
Publication Date: 2022-12-19

Variant appearance in text: rs2273697
PubMed Link: 36536332
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10434.pdf
  • 12885_2022_10434_MOESM2_ESM.pdf
View BVdb publication page



Pharmacogenetics-based population pharmacokinetic analysis and dose optimization of valproic acid in Chinese southern children with epilepsy: Effect of ABCB1 gene polymorphism.

Frontiers In Pharmacology
Shen, Xianhuan X; Chen, Xinyi X; Lu, Jieluan J; Chen, Qing Q; Li, Wenzhou W; Zhu, Jiahao J; He, Yaodong Y; Guo, Huijuan H; Xu, Chenshu C; Fan, Xiaomei X
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 36506519
Variant Present in the following documents:
  • Main text
  • fphar-13-1037239.pdf
View BVdb publication page



Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine
Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y
Publication Date: 2022-12

Variant appearance in text: rs2273697
PubMed Link: 36453946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetics of Drug Metabolism: The Role of Gene Polymorphism in the Regulation of Doxorubicin Safety and Efficacy.

Cancers
Bagdasaryan, Alina A AA; Chubarev, Vladimir N VN; Smolyarchuk, Elena A EA; Drozdov, Vladimir N VN; Krasnyuk, Ivan I II; Liu, Junqi J; Fan, Ruitai R; Tse, Edmund E; Shikh, Evgenia V EV; Sukocheva, Olga A OA
Publication Date: 2022-11-04

Variant appearance in text: ABCC2: Val417Ile; rs2273697
PubMed Link: 36358854
Variant Present in the following documents:
  • Main text
  • cancers-14-05436.pdf
View BVdb publication page



The Role of Single Nucleotide Polymorphisms in Transporter Proteins and the Folate Metabolism Pathway in Delayed Methotrexate Excretion: A Case Report and Literature Review.

Pharmacogenomics And Personalized Medicine
Wang, Jun J; Zhao, Yue-Tao YT; Sun, Meng-Jiao MJ; Chen, Feng F; Guo, Hong-Li HL
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 36349164
Variant Present in the following documents:
  • Main text
  • pgpm-15-919.pdf
View BVdb publication page



Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline.

Pharmaceutics
Zubiaur, Pablo P; Matas, Miriam M; Martín-Vílchez, Samuel S; Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Figueiredo-Tor, Laura L; Calleja, Sofía S; Navares-Gómez, Marcos M; de Miguel, Alejandro A; Novalbos, Jesús J; Mejía-Abril, Gina G; Luquero-Bueno, Sergio S; Román, Manuel M; Ochoa, Dolores D; Abad-Santos, Francisco F
Publication Date: 2022-09-21

Variant appearance in text: rs2273697
PubMed Link: 36297437
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-02001.pdf
View BVdb publication page



Association of ABCC2 polymorphism with clopidogrel response in Chinese patients undergoing percutaneous coronary intervention.

Frontiers In Pharmacology
Chen, Lida L; Zheng, Chao C; Hao, Mengmeng M; Gao, Peng P; Zhao, Meimei M; Cao, Yongtong Y; Ma, Liang L
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 36278153
Variant Present in the following documents:
  • Main text
  • fphar-13-889473.pdf
View BVdb publication page



Impact of ABCC2 1249G>A and -24C>T polymorphisms on lacosamide efficacy and plasma concentrations in Uygur pediatric epilepsy patients in China.

Therapeutic Drug Monitoring
Zhao, Ting T; Li, Hong-Jian HJ; Feng, Jie J; Zhang, Hui-Lan HL; Yu, Jing J; Sun, Yan Y; Yu, Lu-Hai LH
Publication Date: 2022-10-10

Variant appearance in text: rs2273697
PubMed Link: 36253887
Variant Present in the following documents:
  • Main text
  • tdm-45-117.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: ABCC2: V417I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



Tacrolimus Concentration Is Effectively Predicted Using Combined Clinical and Genetic Factors in the Perioperative Period of Kidney Transplantation and Associated with Acute Rejection.

Journal Of Immunology Research
Cheng, Fang F; Li, Qiang Q; Cui, Zheng Z; Wang, Zhendi Z; Zeng, Fang F; Zhang, Yu Y
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 36118414
Variant Present in the following documents:
  • JIR2022-3129389.pdf
View BVdb publication page



Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11

Variant appearance in text: rs2273697
PubMed Link: 36098472
Variant Present in the following documents:
  • HEP4-6-3120-s001.xlsx, sheet 6
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: ABCC2: V417I; rs2273697
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride.

Clinical And Translational Science
Campodónico, Diana María DM; Zubiaur, Pablo P; Soria-Chacartegui, Paula P; Casajús, Ana A; Villapalos-García, Gonzalo G; Navares-Gómez, Marcos M; Gómez-Fernández, Antía A; Parra-Garcés, Raúl R; Mejía-Abril, Gina G; Román, Manuel M; Martín-Vílchez, Samuel S; Ochoa, Dolores D; Abad-Santos, Francisco F
Publication Date: 2022-11

Variant appearance in text: rs2273697
PubMed Link: 36065758
Variant Present in the following documents:
  • Main text
  • CTS-15-2613.pdf
View BVdb publication page



Use of Pharmacogenetics to Optimize Immunosuppressant Therapy in Kidney-Transplanted Patients.

Biomedicines
Urzì Brancati, Valentina V; Scarpignato, Carmelo C; Minutoli, Letteria L; Pallio, Giovanni G
Publication Date: 2022-07-26

Variant appearance in text: rs2273697
PubMed Link: 35892699
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01798.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: ABCC2: 1249G>A; Val417Ile; rs2273697
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Pharmacogenetic Analysis of Voriconazole Treatment in Children.

Pharmaceutics
Tilen, Romy R; Paioni, Paolo P; Goetschi, Aljoscha N AN; Goers, Roland R; Seibert, Isabell I; Müller, Daniel D; Bielicki, Julia A JA; Berger, Christoph C; Krämer, Stefanie D SD; Meyer Zu Schwabedissen, Henriette E HE
Publication Date: 2022-06-17

Variant appearance in text: ABCC2: 1249G>A; rs2273697
PubMed Link: 35745860
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-01289.pdf
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: ABCC2: 1249G>A
PubMed Link: 35582588
Variant Present in the following documents:
  • Main text
  • cdr-2-680.pdf
View BVdb publication page



Pharmacogenetic Profiling in High-Risk Soft Tissue Sarcomas Treated with Neoadjuvant Chemotherapy.

Journal Of Personalized Medicine
Virgili Manrique, Anna C AC; Salazar, Juliana J; Arranz, María Jesús MJ; Bagué, Silvia S; Orellana, Ruth R; López-Pousa, Antonio A; Cerdà, Paula P; Gracia, Isidre I; Majercakova, Katarina K; Peiró, Ana A; Trullols, Laura L; Fernández, Manuel M; Valverde, Sandra S; Quintana, María Jesús MJ; Bell, Olga O; Artigas-Baleri, Alícia A; Sebio, Ana A
Publication Date: 2022-04-11

Variant appearance in text: ABCC2: 1249G>A; Val417Ile; rs2273697
PubMed Link: 35455734
Variant Present in the following documents:
  • Main text
  • jpm-12-00618.pdf
View BVdb publication page



Associations Between Genetic Polymorphisms Within Transporter Genes and Clinical Response to Methotrexate in Chinese Rheumatoid Arthritis Patients: A Pilot Study.

Pharmacogenomics And Personalized Medicine
Cen, Han H; Wen, Qin-Wen QW; Zhang, Han-Qing HQ; Yu, Hang H; Zeng, Zhen Z; Jin, Ting T; Wang, Ting-Hui TH; Qin, Wen W; Huang, Hua H; Wu, Xiu-Di XD
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 35437350
Variant Present in the following documents:
  • Main text
  • pgpm-15-327.pdf
View BVdb publication page



Genetic Polymorphisms and the Clinical Response to Systemic Lupus Erythematosus Treatment Towards Personalized Medicine.

Frontiers In Pharmacology
Barliana, Melisa Intan MI; Afifah, Nadiya Nurul NN; Amalia, Riezki R; Hamijoyo, Laniyati L; Abdulah, Rizky R
Publication Date: 2022

Variant appearance in text: rs2273697
PubMed Link: 35370680
Variant Present in the following documents:
  • Main text
  • fphar-13-820927.pdf
View BVdb publication page



Effects of genetic polymorphism of drug-metabolizing enzymes on the plasma concentrations of antiepileptic drugs in Chinese population.

Bioengineered
Zhao, Weixuan W; Meng, Hongmei H
Publication Date: 2022-03

Variant appearance in text: ABCC2: 1249G>A; rs2273697
PubMed Link: 35290166
Variant Present in the following documents:
  • Main text
  • KBIE_13_2036916.pdf
View BVdb publication page



Pharmacogene Variants Associated with Liver Transplant in a Twelve-Year Clinical Follow-Up.

Pharmaceutics
Sendra, Luis L; Olivera, Gladys G GG; López-Andújar, Rafael R; Serrano, Cristina C; Rojas, Luis E LE; Montalvá, Eva María EM; Herrero, María José MJ; Aliño, Salvador F SF
Publication Date: 2022-02-03

Variant appearance in text: rs2273697
PubMed Link: 35214086
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-00354.pdf
View BVdb publication page



Mechanism of Action and Efficacy of Immunosupressors in Lupus Nephritis.

International Journal Of Nephrology And Renovascular Disease
Alamilla-Sanchez, Mario E ME; Alcala-Salgado, Miguel A MA; Alonso-Bello, Cesar D CD; Fonseca-Gonzalez, Gandhy T GT
Publication Date: 2021

Variant appearance in text: rs2273697
PubMed Link: 34924767
Variant Present in the following documents:
  • Main text
  • ijnrd-14-441.pdf
View BVdb publication page



Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J
Publication Date: 2022-02

Variant appearance in text: rs2273697
PubMed Link: 34862210
Variant Present in the following documents:
  • 268527_2_supp_7525223_r2sknd.pdf
View BVdb publication page