Varaico: Literature-Extracted Genetic Variants

Gene:ABCG2
Variant:p.D620N
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ABCG2

NM_004827.3:p.D620N

Associated Papers

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.

Vávra J et al.

Disease Markers, 2024

In vitro identification of decreased function phenotype ABCG2 variants.

Suominen L et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2023

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Multidrug efflux transporter ABCG2: expression and regulation.

Kukal S et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Medically Important Alterations in Transport Function and Trafficking of ABCG2.

Homolya L

International Journal of Molecular Sciences, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

The ABCG2/BCRP transporter and its variants - from structure to pathology.

Sarkadi B et al.

Febs Letters, 2020

Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.

Zámbó B et al.

Cellular and Molecular Life Sciences : Cmls, 2020

The ABCG2 multidrug transporter is a pump gated by a valve and an extracellular lid.

Khunweeraphong N et al.

Nature Communications, 2019

Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.

Mózner O et al.

Cells, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort.

Toyoda Y et al.

Cells, 2019

Polymorphisms of the Multidrug Pump ABCG2: A Systematic Review of Their Effect on Protein Expression, Function, and Drug Pharmacokinetics.

Heyes N et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2018

Genotyping of the ABCG2 gene using Matrix-Associated Laser Desorption/Ionisation, Time-of-Flight Mass Spectrometry.

Tanaka M et al.

Transfusion Medicine (oxford, England), 2018

An update on the genetics of hyperuricaemia and gout.

Major TJ et al.

Nature Reviews. Rheumatology, 2018

Functional non-synonymous variants of ABCG2 and gout risk.

Stiburkova B et al.

Rheumatology (oxford, England), 2017

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Polymorphisms of the drug transporters ABCB1, ABCG2, ABCC2 and ABCC3 and their impact on drug bioavailability and clinical relevance.

Bruhn O et al.

Expert Opinion on Drug Metabolism & Toxicology, 2014

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.

Haer-Wigman L et al.

Transfusion, 2014

Defining the Jr(a-) phenotype in the Japanese population.

Tanaka M et al.

Transfusion, 2014

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

Noguchi K et al.

Pharmacogenomics and Personalized Medicine, 2014

The JR blood group system: identification of alleles that alter expression.

Hue-Roye K et al.

Transfusion, 2013

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

Nakanishi T et al.

Chinese Journal of Cancer, 2012

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

Moitra K et al.

Drug Metabolism and Drug Interactions, 2011

Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: implication for pharmacogenetics and disease.

Silverton L et al.

Drug Metabolism and Drug Interactions, 2011

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

Ishikawa T et al.

Advances in Pharmacological Sciences, 2010

The 315-316 deletion determines the BXP-21 antibody epitope but has no effect on the function of wild type ABCG2 or the Q141K variant.

Polgar O et al.

Molecular and Cellular Biochemistry, 2009

Functions of the breast cancer resistance protein (BCRP/ABCG2) in chemotherapy.

Noguchi K et al.

Advanced Drug Delivery Reviews, 2009

Human ABC transporters ABCG2 (BCRP) and ABCG4.

Koshiba S et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2008

The identification of two germ-line mutations in the human breast cancer resistance protein gene that result in the expression of a low/non-functional protein.

Yoshioka S et al.

Pharmaceutical Research, 2007

Towards understanding the mechanism of action of the multidrug resistance-linked half-ABC transporter ABCG2: a molecular modeling study.

Li YF et al.

Journal of Molecular Graphics & Modelling, 2007

Functional validation of the genetic polymorphisms of human ATP-binding cassette (ABC) transporter ABCG2: identification of alleles that are defective in porphyrin transport.

Tamura A et al.

Molecular Pharmacology, 2006

Functional SNPs of the breast cancer resistance protein-therapeutic effects and inhibitor development.

Yanase K et al.

Cancer Letters, 2006

The role of the human ABCG2 multidrug transporter and its variants in cancer therapy and toxicology.

Cervenak J et al.

Cancer Letters, 2006

Genetic polymorphisms of human ABC transporter ABCG2: development of the standard method for functional validation of SNPs by using the Flp recombinase system.

Tamura A et al.

Journal of Experimental Therapeutics & Oncology, 2006

Genetic polymorphisms of ATP-binding cassette transporters ABCB1 and ABCG2: therapeutic implications.

Sakurai A et al.

Expert Opinion on Pharmacotherapy, 2005

Single nucleotide polymorphisms modify the transporter activity of ABCG2.

Morisaki K et al.

Cancer Chemotherapy and Pharmacology, 2005

Functional analysis of the human variants of breast cancer resistance protein: I206L, N590Y, and D620N.

Vethanayagam RR et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2005

Detection of single nucleotide polymorphisms in the ABCG2 gene in a Dutch population.

Bosch TM et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2005

High-speed screening of human ATP-binding cassette transporter function and genetic polymorphisms: new strategies in pharmacogenomics.

Ishikawa T et al.

Methods in Enzymology, 2005

Single-nucleotide polymorphism (SNP) analysis in the ABC half-transporter ABCG2 (MXR/BCRP/ABCP1).

Honjo Y et al.

Cancer Biology & Therapy, 0

Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) efflux transporters.

Choudhuri S et al.

International Journal of Toxicology, 0

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