ABCG2 c.496C>G ;(p.Q166E)

Variant ID: 4-89052248-G-C

NM_004827.2(ABCG2):c.496C>G;(p.Q166E)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Genetic Predictors of Antipsychotic Efflux Impairment via Blood-Brain Barrier: Role of Transport Proteins.

Genes
Nasyrova, Regina F RF; Shnayder, Natalia A NA; Osipova, Sofia M SM; Khasanova, Aiperi K AK; Efremov, Ilya S IS; Al-Zamil, Mustafa M; Petrova, Marina M MM; Narodova, Ekaterina A EA; Garganeeva, Natalia P NP; Shipulin, German A GA
Publication Date: 2023-05-15

Variant appearance in text: rs1061017
PubMed Link: 37239445
Variant Present in the following documents:
  • genes-14-01085.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: ABCG2: 496C>G; Q166E; rs1061017
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: ABCG2: Q166E
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
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: ABCG2: 496C>G; Q166E; rs1061017
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ABCG2: Q166E
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: ABCG2: Gln166Glu; rs1061017
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ABCG2: 496C>G; Q166E
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: rs1061017
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: ABCG2: Q166E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: rs1061017
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ABCG2: Q166E
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.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: rs1061017
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Human ABC transporter ABCG2/BCRP expression in chemoresistance: basic and clinical perspectives for molecular cancer therapeutics.

Pharmacogenomics And Personalized Medicine
Noguchi, Kohji K; Katayama, Kazuhiro K; Sugimoto, Yoshikazu Y
Publication Date: 2014

Variant appearance in text: BCRP: Q166E
PubMed Link: 24523596
Variant Present in the following documents:
  • Main text
  • pgpm-7-053.pdf
View BVdb publication page



Sequence mutations of the substrate binding pocket of stem cell factor and multidrug resistance protein ABCG2 in renal cell cancer: a possible link to treatment resistance.

Oncology Reports
Zoernig, Inka I; Ziegelmeier, Claudia C; Lahrmann, Bernd B; Grabe, Niels N; Jäger, Dirk D; Halama, Niels N
Publication Date: 2013-05

Variant appearance in text: rs1061017
PubMed Link: 23467750
Variant Present in the following documents:
  • Main text
  • or-29-05-1697.pdf
View BVdb publication page



Moving out: from sterol transport to drug resistance - the ABCG subfamily of efflux pumps.

Drug Metabolism And Drug Interactions
Moitra, Karobi K; Silverton, Latoya L; Limpert, Katy K; Im, Kate K; Dean, Michael M
Publication Date: 2011

Variant appearance in text: ABCG2: Q166E; rs1061017
PubMed Link: 21942345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Key Role of Human ABC Transporter ABCG2 in Photodynamic Therapy and Photodynamic Diagnosis.

Advances In Pharmacological Sciences
Ishikawa, Toshihisa T; Nakagawa, Hiroshi H; Hagiya, Yuichiro Y; Nonoguchi, Naosuke N; Miyatake, Shin-Ichi S; Kuroiwa, Toshihiko T
Publication Date: 2010

Variant appearance in text: ABCG2: Q166E
PubMed Link: 21188243
Variant Present in the following documents:
  • Main text
  • APS2010-587306.pdf
View BVdb publication page



Structure and function of the human breast cancer resistance protein (BCRP/ABCG2).

Current Drug Metabolism
Ni, Zhanglin Z; Bikadi, Zsolt Z; Rosenberg, Mark F MF; Mao, Qingcheng Q
Publication Date: 2010-09

Variant appearance in text: BCRP: Q166E
PubMed Link: 20812902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of compounds that correlate with ABCG2 transporter function in the National Cancer Institute Anticancer Drug Screen.

Molecular Pharmacology
Deeken, John F JF; Robey, Robert W RW; Shukla, Suneet S; Steadman, Kenneth K; Chakraborty, Arup R AR; Poonkuzhali, Balasubramanian B; Schuetz, Erin G EG; Holbeck, Susan S; Ambudkar, Suresh V SV; Bates, Susan E SE
Publication Date: 2009-11

Variant appearance in text: ABCG2: Q166E; rs1061017
PubMed Link: 19633067
Variant Present in the following documents:
  • Main text
View BVdb publication page