UGT2B7 c.372A>G ;(p.R124=)

Variant ID: 4-69962610-A-G

NM_001074.2(UGT2B7):c.372A>G;(p.R124=)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


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

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

Variant appearance in text: UGT2B7: R124R; rs28365063
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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

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

Variant appearance in text: UGT2B7: R124R; rs28365063
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: UGT2B7: R124R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
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: UGT2B7: 372A>G; Arg124=; rs28365063
PubMed Link: 35846994
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
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: UGT2B7: 372A>G
PubMed Link: 35290166
Variant Present in the following documents:
  • Main text
  • KBIE_13_2036916.pdf
View BVdb publication page



Influence of SULT1A1*2 Polymorphism on Plasma Efavirenz Concentration in Thai HIV-1 Patients.

Pharmacogenomics And Personalized Medicine
Chamnanphon, Monpat M; Sukprasong, Rattanaporn R; Gaedigk, Andrea A; Manosuthi, Weerawat W; Chariyavilaskul, Pajaree P; Wittayalertpanya, Supeecha S; Koomdee, Napatrupron N; Jantararoungtong, Thawinee T; Puangpetch, Apichaya A; Sukasem, Chonlaphat C
Publication Date: 2021

Variant appearance in text: UGT2B7: 372A>G; rs28365063
PubMed Link: 34335044
Variant Present in the following documents:
  • Main text
  • pgpm-14-915.pdf
View BVdb publication page



The Functionality of UDP-Glucuronosyltransferase Genetic Variants and their Association with Drug Responses and Human Diseases.

Journal Of Personalized Medicine
Jarrar, Yazun Y; Lee, Su-Jun SJ
Publication Date: 2021-06-14

Variant appearance in text: rs28365063
PubMed Link: 34198586
Variant Present in the following documents:
  • Main text
  • jpm-11-00554.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: UGT2B7: R124R; rs28365063
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine.

British Journal Of Clinical Pharmacology
Yip, Vincent L M VLM; Pertinez, Henry H; Meng, Xiaoli X; Maggs, James L JL; Carr, Daniel F DF; Park, B Kevin BK; Marson, Anthony G AG; Pirmohamed, Munir M
Publication Date: 2021-06

Variant appearance in text: rs28365063
PubMed Link: 33217013
Variant Present in the following documents:
  • Main text
  • BCP-87-2572.pdf
View BVdb publication page



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

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

Variant appearance in text: UGT2B7: R124R; rs28365063
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
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: UGT2B7: 372A>G; rs28365063
PubMed Link: 32021383
Variant Present in the following documents:
  • Main text
  • pgpm-13-1.pdf
View BVdb publication page



Pharmacogenomic Characterization in Bipolar Spectrum Disorders.

Pharmaceutics
Fortinguerra, Stefano S; Sorrenti, Vincenzo V; Giusti, Pietro P; Zusso, Morena M; Buriani, Alessandro A
Publication Date: 2019-12-21

Variant appearance in text: rs28365063
PubMed Link: 31877761
Variant Present in the following documents:
  • Main text
  • pharmaceutics-12-00013.pdf
View BVdb publication page



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

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

Variant appearance in text: UGT2B7: R124R; rs28365063
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Effects of Comedication and Genetic Factors on the Population Pharmacokinetics of Lamotrigine: A Prospective Analysis in Chinese Patients With Epilepsy.

Frontiers In Pharmacology
Wang, Zhan-Zhang ZZ; Zhang, Yue-Feng YF; Huang, Wen-Can WC; Wang, Xi-Pei XP; Ni, Xiao-Jiao XJ; Lu, Hao-Yang HY; Hu, Jin-Qing JQ; Deng, Shu-Hua SH; Zhu, Xiu-Qing XQ; Xie, Huan-Shan HS; Chen, Hong-Zhen HZ; Zhang, Ming M; Qiu, Chang C; Wen, Yu-Guan YG; Shang, De-Wei DW
Publication Date: 2019

Variant appearance in text: rs28365063
PubMed Link: 31404235
Variant Present in the following documents:
  • Main text
  • fphar-10-00832.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: UGT2B7: R124R; rs28365063
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Comparison of oxcarbazepine efficacy and MHD concentrations relative to age and BMI: Associations among ABCB1, ABCC2, UGT2B7, and SCN2A polymorphisms.

Medicine
Yang, Xue X; Yan, Yuanliang Y; Fang, Shu S; Zeng, Shuangshuang S; Ma, Hongying H; Qian, Long L; Chen, Xi X; Wei, Jie J; Gong, Zhicheng Z; Xu, Zhijie Z
Publication Date: 2019-03

Variant appearance in text: rs28365063
PubMed Link: 30896644
Variant Present in the following documents:
  • Main text
  • medi-98-e14908.pdf
View BVdb publication page



Prospective observational pharmacogenetic study of side effects induced by intravenous morphine for postoperative analgesia.

Medicine
Chen, Li-Kuei LK; Wang, Mao-Hsien MH; Yang, Hong-Jyh HJ; Fan, Shou-Zen SZ; Chen, Shiou-Sheng SS
Publication Date: 2017-06

Variant appearance in text: rs28365063
PubMed Link: 28640078
Variant Present in the following documents:
  • medi-96-e7009.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: UGT2B7: 372A>G; Arg124Arg; rs28365063
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Pharmacokinetics of lamotrigine and its metabolite N-2-glucuronide: Influence of polymorphism of UDP-glucuronosyltransferases and drug transporters.

British Journal Of Clinical Pharmacology
Milosheska, Daniela D; Lorber, Bogdan B; Vovk, Tomaž T; Kastelic, Matej M; Dolžan, Vita V; Grabnar, Iztok I
Publication Date: 2016-08

Variant appearance in text: rs28365063
PubMed Link: 27096250
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.

Frontiers In Genetics
Swart, Marelize M; Evans, Jonathan J; Skelton, Michelle M; Castel, Sandra S; Wiesner, Lubbe L; Smith, Peter J PJ; Dandara, Collet C
Publication Date: 2015

Variant appearance in text: UGT2B7: 372A>G
PubMed Link: 26779253
Variant Present in the following documents:
  • Main text
  • fgene-06-00356.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: UGT2B7: R124R
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
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: UGT2B7: R124R; rs28365063
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.

Human Molecular Genetics
Liu, Wanqing W; Ramírez, Jacqueline J; Gamazon, Eric R ER; Mirkov, Snezana S; Chen, Peixian P; Wu, Kehua K; Sun, Chang C; Cox, Nancy J NJ; Cook, Edwin E; Das, Soma S; Ratain, Mark J MJ
Publication Date: 2014-10-15

Variant appearance in text: rs28365063
PubMed Link: 24879639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
Publication Date: 2014-01

Variant appearance in text: rs28365063
PubMed Link: 24339312
Variant Present in the following documents:
  • ymj-55-232.pdf
View BVdb publication page



IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist.

American Journal Of Respiratory And Critical Care Medicine
Meyer, Nuala J NJ; Feng, Rui R; Li, Mingyao M; Zhao, Yang Y; Sheu, Chau-Chyun CC; Tejera, Paula P; Gallop, Robert R; Bellamy, Scarlett S; Rushefski, Melanie M; Lanken, Paul N PN; Aplenc, Richard R; O'Keefe, Grant E GE; Wurfel, Mark M MM; Christiani, David C DC; Christie, Jason D JD
Publication Date: 2013-05-01

Variant appearance in text: rs28365063
PubMed Link: 23449693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy.

Pharmacogenomics
Puranik, Yogita Ghodke YG; Birnbaum, Angela K AK; Marino, Susan E SE; Ahmed, Ghada G; Cloyd, James C JC; Remmel, Rory P RP; Leppik, Ilo E IE; Lamba, Jatinder K JK
Publication Date: 2013-01

Variant appearance in text: rs28365063
PubMed Link: 23252947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.

Pharmacogenetics And Genomics
Innocenti, Federico F; Liu, Wanqing W; Fackenthal, Donna D; Ramírez, Jacqueline J; Chen, Peixian P; Ye, Xin X; Wu, Xiaolin X; Zhang, Wei W; Mirkov, Snezana S; Das, Soma S; Cook, Edwin E; Ratain, Mark J MJ
Publication Date: 2008-08

Variant appearance in text: N/A
PubMed Link: 18622261
Variant Present in the following documents:
View BVdb publication page