ABCG2 c.616A>C ;(p.I206L)

Variant ID: 4-89042860-T-G

NM_004827.2(ABCG2):c.616A>C;(p.I206L)

This variant was identified in 15 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: rs12721643
PubMed Link: 37239445
Variant Present in the following documents:
  • genes-14-01085.pdf
View BVdb publication page



Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Blood Advances
Jadhao, Sudhir S; Davison, Candice C; Roulis, Eileen V EV; Lee, Simon S; Lacaze, Paul P; Riaz, Moeen M; McNeil, John J JJ; Thomas, David M DM; Pecheniuk, Natalie M NM; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH
Publication Date: 2022-08-09

Variant appearance in text: ABCG2: I206L; rs12721643
PubMed Link: 35420653
Variant Present in the following documents:
  • mmc1.xlsx, sheet 5
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: rs12721643
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 5
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: I206L; rs12721643
PubMed Link: 33801813
Variant Present in the following documents:
  • Main text
  • ijms-22-02786.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: I206L
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
  • FEB2-594-4035.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: rs12721643
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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: I206L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: I206L
PubMed Link: 25236865
Variant Present in the following documents:
  • Main text
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: I206L
PubMed Link: 24523596
Variant Present in the following documents:
  • Main text
  • pgpm-7-053.pdf
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: 616A>C; rs12721643
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: I206L; rs12721643
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: I206L
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: I206L
PubMed Link: 20812902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society
Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A
Publication Date: 2010-11

Variant appearance in text: ABCG2: I206L
PubMed Link: 20799350
Variant Present in the following documents:
  • Main text
View BVdb publication page



Flow cytometric evaluation of multidrug resistance proteins.

Methods In Molecular Biology (Clifton, N.J.)
Aszalos, Adorjan A; Taylor, Barbara J BJ
Publication Date: 2010

Variant appearance in text: BCRP: I206L
PubMed Link: 19949923
Variant Present in the following documents:
  • Main text
View BVdb publication page