ABCG2 c.623T>C ;(p.F208S)

Variant ID: 4-89042853-A-G

NM_004827.2(ABCG2):c.623T>C;(p.F208S)

This variant was identified in 27 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: rs1061018
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: 623T>C; F208S; rs1061018
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: F208S; rs1061018
PubMed Link: 33801813
Variant Present in the following documents:
  • Main text
  • ijms-22-02786.pdf
View BVdb publication page



Identification of Specific Trafficking Defects of Naturally Occurring Variants of the Human ABCG2 Transporter.

Frontiers In Cell And Developmental Biology
Bartos, Zsuzsa Z; Homolya, László L
Publication Date: 2021

Variant appearance in text: ABCG2: F208S
PubMed Link: 33634118
Variant Present in the following documents:
  • Main text
  • fcell-09-615729.pdf
View BVdb publication page



Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Publication Date: 2020-12

Variant appearance in text: ABCG2: F208S
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
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: 623T>C; F208S; rs1061018
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Development of precision medicine approaches based on inter-individual variability of BCRP/ABCG2.

Acta Pharmaceutica Sinica. B
Chen, Liming L; Manautou, Jose E JE; Rasmussen, Theodore P TP; Zhong, Xiao-Bo XB
Publication Date: 2019-07

Variant appearance in text: BCRP: F208S
PubMed Link: 31384528
Variant Present in the following documents:
  • Main text
  • main.pdf
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: F208S; rs1061018
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: 623T>C; rs1061018
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: Phe208Ser; rs1061018
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.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: rs1061018
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: F208S
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: rs1061018
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Role of the breast cancer resistance protein (BCRP/ABCG2) in drug transport--an update.

The Aaps Journal
Mao, Qingcheng Q; Unadkat, Jashvant D JD
Publication Date: 2015-01

Variant appearance in text: BCRP: F208S
PubMed Link: 25236865
Variant Present in the following documents:
  • Main text
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: rs1061018
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: F208S
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: rs1061018
PubMed Link: 23467750
Variant Present in the following documents:
  • Main text
  • or-29-05-1697.pdf
View BVdb publication page



The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology.

Physiological Reviews
Guerriero, Christopher J CJ; Brodsky, Jeffrey L JL
Publication Date: 2012-04

Variant appearance in text: BCRP: F208S
PubMed Link: 22535891
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of breast cancer resistance protein (BCRP/ABCG2) in cancer drug resistance.

Biochemical Pharmacology
Natarajan, Karthika K; Xie, Yi Y; Baer, Maria R MR; Ross, Douglas D DD
Publication Date: 2012-04-15

Variant appearance in text: BCRP: F208S
PubMed Link: 22248732
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer resistance protein (BCRP/ABCG2): its role in multidrug resistance and regulation of its gene expression.

Chinese Journal Of Cancer
Nakanishi, Takeo T; Ross, Douglas D DD
Publication Date: 2012-02

Variant appearance in text: BCRP: 623T>C; rs1061018
PubMed Link: 22098950
Variant Present in the following documents:
  • Main text
  • cjc-31-02-073.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: F208S; rs1061018
PubMed Link: 21942345
Variant Present in the following documents:
  • Main text
View BVdb publication page



CXCR6, a newly defined biomarker of tissue-specific stem cell asymmetric self-renewal, identifies more aggressive human melanoma cancer stem cells.

Plos One
Taghizadeh, Rouzbeh R; Noh, Minsoo M; Huh, Yang Hoon YH; Ciusani, Emilio E; Sigalotti, Luca L; Maio, Michele M; Arosio, Beatrice B; Nicotra, Maria R MR; Natali, PierGiorgio P; Sherley, James L JL; La Porta, Caterina A M CA
Publication Date: 2010-12-22

Variant appearance in text: ABCG2: F208S
PubMed Link: 21203549
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: F208S
PubMed Link: 21188243
Variant Present in the following documents:
  • Main text
  • APS2010-587306.pdf
View BVdb publication page



Posttranslational negative regulation of glycosylated and non-glycosylated BCRP expression by Derlin-1.

Biochemical And Biophysical Research Communications
Sugiyama, Takashi T; Shuto, Tsuyoshi T; Suzuki, Shingo S; Sato, Takashi T; Koga, Tomoaki T; Suico, Mary Ann MA; Kusuhara, Hiroyuki H; Sugiyama, Yuichi Y; Cyr, Douglas M DM; Kai, Hirofumi H
Publication Date: 2011-01-21

Variant appearance in text: BCRP: F208S
PubMed Link: 21184741
Variant Present in the following documents:
  • Main text
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: F208S
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: F208S; rs1061018
PubMed Link: 19633067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Major SNP (Q141K) variant of human ABC transporter ABCG2 undergoes lysosomal and proteasomal degradations.

Pharmaceutical Research
Furukawa, Tomoka T; Wakabayashi, Kanako K; Tamura, Ai A; Nakagawa, Hiroshi H; Morishima, Yoshihiro Y; Osawa, Yoichi Y; Ishikawa, Toshihisa T
Publication Date: 2009-02

Variant appearance in text: ABCG2: F208S
PubMed Link: 18958403
Variant Present in the following documents:
  • Main text
View BVdb publication page