Varaico: Literature-Extracted Genetic Variants

Gene:ABCG2
Variant:p.Q126*
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ABCG2

NM_004827.3:p.Q126*

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

Advancements in Blood Group Genotyping Technology and Clinical Applications.

Liu X et al.

Clinical Chemistry, 2026

Genotype-Driven Resolution of Panagglutination Over a Decade of Korean Rare Blood Program Case Archives.

Kim H et al.

Journal of Clinical Laboratory Analysis, 2026

Synergistic effects of ABCG2 Q141K variant in combination with alcohol consumption and male sex on gout risk in a rare-event Taiwanese cohort.

Lai ZL et al.

Scientific Reports, 2026

Genetic and epigenetic contribution of ABCG2 to gout susceptibility: a case-control study.

Clavijo-Cornejo D et al.

Molecular Biology Reports, 2025

Identification of pathogenic variants in the ABCG2 gene in patients with severe familial hyperuricemia and gout.

Toyoda Y et al.

Molecular and Cellular Biochemistry, 2025

Genetic background of selected hyperuricemia causing gout with pediatric onset.

Stiburkova B et al.

Joint Bone Spine, 2025

First verification of human small intestinal uric acid secretion and effect of ABCG2 polymorphisms.

Miyazaki R et al.

Journal of Translational Medicine, 2025

[Identification of Jr(a-) rare blood type antibodies against anti-Jra: serological and molecular biology analysis and transfusion strategy].

Wu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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

El-Ashmawy NE et al.

Life Sciences, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST7_pLOF_PPI___0.1

The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies.

Leask MP et al.

Nature Reviews. Rheumatology, 2024

Genotype Analysis of the JR Blood Group in an East Asian Population Using Tetra-Primer ARMS-PCR.

Song SA et al.

Annals of Clinical and Laboratory Science, 2024

Generation of a human induced pluripotent stem cell line (YUCMi020-A) from peripheral blood mononuclear cells derived from a female with the Jr(a-) blood type.

Cho YK et al.

Stem Cell Research, 2024

Understanding the impact of ABCG2 polymorphisms on drug pharmacokinetics: focus on rosuvastatin and allopurinol.

Kasten A et al.

Expert Opinion on Drug Metabolism & Toxicology, 2024

A novel ABCG2 variant causing Jr(a-) phenotype.

Kwon SS et al.

Transfusion, 2024

Biochemical characterization of Jr(a-) blood type-related ABCG2 variants: Arg147Trp and Ser572Arg disrupt the plasma membrane localization of ABCG2.

Toyoda Y et al.

Transfusion, 2024

[Establishment of a genotyping method for the junior blood group and identification of a rare blood type with partial DVI.3 and Jr(a-)].

Liang S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database.

Kim TY et al.

Transfusion, 2024

A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders.

Li X et al.

Frontiers in Genetics, 2024

[Uric Acid Metabolism, Uric Acid Transporters and Dysuricemia].

Ichida K

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2024

Association of ABCG2 Polymorphisms on Triple Negative Breast Cancer (TNBC) Susceptibility Risk.

Hao Ing Y et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Investigation of blood group genotype prevalence in Korean population using large genomic databases.

Bae CO et al.

Scientific Reports, 2023

Hemolytic disease of the newborn due to anti-Jra from a Chinese mother with one novel and one classic heterozygous mutation.

Xiao J et al.

Transfusion Medicine (oxford, England), 2023

Impact of Hyper- and Hypo-Uricemia on Kidney Function.

Miake J et al.

Biomedicines, 2023

Urate Transporter ABCG2 Function and Asymptomatic Hyperuricemia: A Retrospective Cohort Study of CKD Progression.

Ohashi Y et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023

Evaluation of ABCG2-mediated extra-renal urate excretion in hemodialysis patients.

Ohashi Y et al.

Scientific Reports, 2023

The Relationship of Uremic Toxin Indoxyl Sulfate and Intestinal Elimination Mechanisms in Hemodialysis Patients.

Tomášová A et al.

Kidney & Blood Pressure Research, 2023

Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes.

Ohnami S et al.

Scientific Reports, 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

Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases.

Kim TY et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

Examining an Association of Single Nucleotide Polymorphisms with Hyperuricemia in Chinese Flight Attendants.

Ye J et al.

Pharmacogenomics and Personalized Medicine, 2022

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.

Zhao J et al.

Frontiers in Cell and Developmental Biology, 2022

Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.

Toyoda Y et al.

Rheumatology (oxford, England), 2021

Aotearoa New Zealand Māori and Pacific Population-amplified Gout Risk Variants: CLNK Is a Separate Risk Gene at the SLC2A9 Locus.

Ji A et al.

The Journal of Rheumatology, 2021

Multidrug efflux transporter ABCG2: expression and regulation.

Kukal S et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.

Sakiyama M et al.

Human Cell, 2021

The Role of ABCG2 in the Pathogenesis of Primary Hyperuricemia and Gout-An Update.

Eckenstaler R et al.

International Journal of Molecular Sciences, 2021

Urate Transporters in the Kidney: What Clinicians Need to Know.

Chung S et al.

Electrolyte & Blood Pressure : E & Bp, 2021

ABCB1, ABCG2, ABCC1, ABCC2, and ABCC3 drug transporter polymorphisms and their impact on drug bioavailability: what is our current understanding?

Bruckmueller H et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Medically Important Alterations in Transport Function and Trafficking of ABCG2.

Homolya L

International Journal of Molecular Sciences, 2021

Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.

Kawaguchi M et al.

Human Cell, 2021

33517564 (PubMed )
Supplement: 13577_2021_485_MOESM1_ESM.pdf

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.

Toyoda Y et al.

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

Common germline-somatic variant interactions in advanced urothelial cancer.

Vosoughi A et al.

Nature Communications, 2020

33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM6_ESM.xlsx › Suppl._Data_4

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

Sarkadi B et al.

Febs Letters, 2020

Determinants of gefitinib pharmacokinetics in healthy Chinese male subjects: A pharmacogenomic study of cytochrome p450 enzymes and transporters.

Wan Z et al.

Journal of Clinical Pharmacy and Therapeutics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."