Varaico: Literature-Extracted Genetic Variants

Gene:ABCG2
Variant:p.S441N
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ABCG2

NM_004827.3:p.S441N

Associated Papers

Effect of ABCG2 genetic polymorphisms on the transport of anti-seizure medications in hCMEC/D3 cell lines.

Bora S et al.

Cytotechnology, 2026

rs2231142 (421 C>A, Q141K) Is More Functionally Influential than rs2231137 (34 G>A, V12M) on Anticancer Drug Resistance Mediated by the ABCG2 Haplotype In Vitro.

Yamashita M et al.

International Journal of Molecular Sciences, 2025

The role of ABCG2 in health and disease: Linking cancer therapy resistance and other disorders.

El-Ashmawy NE et al.

Life Sciences, 2025

A Pan-Cancer Landscape of ABCG2 across Human Cancers: Friend or Foe?

Lyu C et al.

International Journal of Molecular Sciences, 2022

Impacts of SNPs on adverse events and trough concentration of imatinib in patients with gastrointestinal stromal tumors.

Maekawa K et al.

Drug Metabolism and Pharmacokinetics, 2022

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

Racial Disparity in Drug Disposition in the Digestive Tract.

Gao S et al.

International Journal of Molecular Sciences, 2021

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

Bartos Z et al.

Frontiers in Cell and Developmental Biology, 2021

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

Sarkadi B et al.

Febs Letters, 2020

Genetic Diversity in Drug Transporters: Impact in African Populations.

Rajman I et al.

Clinical and Translational Science, 2020

ABCG2/BCRP: variants, transporter interaction profile of substrates and inhibitors.

Safar Z et al.

Expert Opinion on Drug Metabolism & Toxicology, 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

Polymorphisms of ABCG2 and its impact on clinical relevance.

Zhang W et al.

Biochemical and Biophysical Research Communications, 2018

Transmembrane Domain Single-Nucleotide Polymorphisms Impair Expression and Transport Activity of ABC Transporter ABCG2.

Sjöstedt N et al.

Pharmaceutical Research, 2017

Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.

Hegde RN et al.

Tissue & Cell, 2017

Multiple common and rare variants of ABCG2 cause gout.

Higashino T et al.

Rmd Open, 2017

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

The ABCG2 gene Q141K polymorphism contributes to an increased risk of gout: a meta-analysis of 2185 cases.

Qiu Y et al.

Modern Rheumatology, 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

Effect of the ATP-binding cassette transporter ABCG2 on pharmacokinetics: experimental findings and clinical implications.

Schnepf R et al.

Expert Opinion on Drug Metabolism & Toxicology, 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

ABCG2 is a high-capacity urate transporter and its genetic impairment increases serum uric acid levels in humans.

Nakayama A et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Identification of ABCG2 dysfunction as a major factor contributing to gout.

Matsuo H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

ABCG2/BCRP dysfunction as a major cause of gout.

Matsuo H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.

Nakagawa H et al.

Journal of Pharmaceutical Sciences, 2011

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

Sugiyama T et al.

Biochemical and Biophysical Research Communications, 2011

Production of cells with targeted integration of gene variants of human ABC transporter for stable and regulated expression using the Flp recombinase system.

Wakabayashi-Nakao K et al.

Methods in Molecular Biology (clifton, N.j.), 2010

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

Ishikawa T et al.

Advances in Pharmacological Sciences, 2010

Disruption of N-linked glycosylation enhances ubiquitin-mediated proteasomal degradation of the human ATP-binding cassette transporter ABCG2.

Nakagawa H et al.

The Febs Journal, 2009

Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.

Matsuo H et al.

Science Translational Medicine, 2009

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

Furukawa T et al.

Pharmaceutical Research, 2009

Quality control of human ABCG2 protein in the endoplasmic reticulum: ubiquitination and proteasomal degradation.

Wakabayashi-Nakao 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

Ubiquitin-mediated proteasomal degradation of non-synonymous SNP variants of human ABC transporter ABCG2.

Nakagawa H et al.

The Biochemical Journal, 2008

Drug transporters: recent advances concerning BCRP and tyrosine kinase inhibitors.

Lemos C et al.

British Journal of Cancer, 2008

In vitro evaluation of photosensitivity risk related to genetic polymorphisms of human ABC transporter ABCG2 and inhibition by drugs.

Tamura A et al.

Drug Metabolism and Pharmacokinetics, 2007

Identification and functional assessment of BCRP polymorphisms in a Korean population.

Lee SS et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2007

Re-evaluation and functional classification of non-synonymous single nucleotide polymorphisms of the human ATP-binding cassette transporter ABCG2.

Tamura A et al.

Cancer Science, 2007

[Genetic polymorphisms of human ABC transporter ABCG2: Porphyria risk and ER quality control].

Wakabayashi K et al.

Seikagaku. the Journal of Japanese Biochemical Society, 2007

Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs.

Cascorbi I

Pharmacology & Therapeutics, 2006

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

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

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

Functional assessment of ABCG2 (BCRP) gene polymorphisms to protein expression in human placenta.

Kobayashi D et al.

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

Functional analysis of SNPs variants of BCRP/ABCG2.

Kondo C et al.

Pharmaceutical Research, 2004

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