ABCG2 c.1000G>T ;(p.E334*)

Variant ID: 4-89034649-C-A

NM_004827.2(ABCG2):c.1000G>T;(p.E334*)

This variant was identified in 12 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: rs3201997
PubMed Link: 37239445
Variant Present in the following documents:
  • genes-14-01085.pdf
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: rs3201997
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
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: 1000G>T; E334X; rs3201997
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Medically Important Alterations in Transport Function and Trafficking of ABCG2.

International Journal Of Molecular Sciences
Homolya, László L
Publication Date: 2021-03-10

Variant appearance in text: ABCG2: E334X
PubMed Link: 33801813
Variant Present in the following documents:
  • Main text
  • ijms-22-02786.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: ABCG2: 1000G>T; E334X; rs3201997
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Multiple common and rare variants of ABCG2 cause gout.

Rmd Open
Higashino, Toshihide T; Takada, Tappei T; Nakaoka, Hirofumi H; Toyoda, Yu Y; Stiburkova, Blanka B; Miyata, Hiroshi H; Ikebuchi, Yuki Y; Nakashima, Hiroshi H; Shimizu, Seiko S; Kawaguchi, Makoto M; Sakiyama, Masayuki M; Nakayama, Akiyoshi A; Akashi, Airi A; Tanahashi, Yuki Y; Kawamura, Yusuke Y; Nakamura, Takahiro T; Wakai, Kenji K; Okada, Rieko R; Yamamoto, Ken K; Hosomichi, Kazuyoshi K; Hosoya, Tatsuo T; Ichida, Kimiyoshi K; Ooyama, Hiroshi H; Suzuki, Hiroshi H; Inoue, Ituro I; Merriman, Tony R TR; Shinomiya, Nariyoshi N; Matsuo, Hirotaka H
Publication Date: 2017

Variant appearance in text: ABCG2: E334X; rs3201997
PubMed Link: 29225919
Variant Present in the following documents:
  • Main text
  • rmdopen-2017-000464.pdf
View BVdb publication page



PharmGKB summary: very important pharmacogene information for ABCG2.

Pharmacogenetics And Genomics
Fohner, Alison E AE; Brackman, Deanna J DJ; Giacomini, Kathleen M KM; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2017-11

Variant appearance in text: BCRP: 1000G>T; rs3201997
PubMed Link: 28858993
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: ABCG2: Glu334*; rs3201997
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, 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: rs3201997
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: rs3201997
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
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: rs3201997
PubMed Link: 23467750
Variant Present in the following documents:
  • Main text
  • or-29-05-1697.pdf
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: E334*; rs3201997
PubMed Link: 19633067
Variant Present in the following documents:
  • Main text
View BVdb publication page