Varaico: Literature-Extracted Genetic Variants

Gene:ABCB1
Variant:p.N183S
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ABCB1

NM_001348946.2:p.N183S

Associated Papers

G521 is the gatekeeper and a key transmembrane domain contact residue of Candida albicans Cdr1.

Zhao M et al.

Mbio, 2026

In vitro identification of decreased function genetic variants of ABCB1.

Suominen L et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2025

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S2

Contribution of rare genetic variants to drug response in absence epilepsy.

Myers KA et al.

Epilepsy Research, 2021

Relationship Between ABCB1 Polymorphisms and Cold Pain Sensitivity Among Healthy Opioid-naive Malay Males.

Zahari Z et al.

Pain Practice : the Official Journal of World Institute of Pain, 2017

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

Apellániz-Ruiz M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308

An update on ABCB1 pharmacogenetics: insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics.

Wolf SJ et al.

The Pharmacogenomics Journal, 2011

P-glycoprotein: tissue distribution, substrates, and functional consequences of genetic variations.

Cascorbi I

Handbook of Experimental Pharmacology, 2011

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

Cascorbi I

Pharmacology & Therapeutics, 2006

MDR1 gene polymorphisms and clinical relevance.

Li YH et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 2006

Single nucleotide polymorphisms in human P-glycoprotein: its impact on drug delivery and disposition.

Dey S

Expert Opinion on Drug Delivery, 2006

[Association study between NPY and YWHAH gene polymorphisms and schizophrenia].

Wang HS et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 2005

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

Sakurai A et al.

Expert Opinion on Pharmacotherapy, 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

Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis.

Potocnik U et al.

Genes and Immunity, 2004

[Detecting genetic polymorphisms of CYP1 A1 and GSTM1 simultaneously with oligonucleotide microarray].

Liu SZ et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 2004

The MDR1 (ABCB1) gene polymorphism and its clinical implications.

Ieiri I et al.

Clinical Pharmacokinetics, 2004

Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan.

Sai K et al.

Pharmacogenetics, 2003

[MDR1 genotypes related to pharmacokinetics and MDR1 expression].

Nakamura T

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2003

The influence of MDR1 polymorphisms on P-glycoprotein expression and function in humans.

Fromm MF

Advanced Drug Delivery Reviews, 2002

MDR1 genotype-related pharmacokinetics and pharmacodynamics.

Sakaeda T et al.

Biological & Pharmaceutical Bulletin, 2002

Identification of functionally variant MDR1 alleles among European Americans and African Americans.

Kim RB et al.

Clinical Pharmacology and Therapeutics, 2001

[Analysis of association between gene polymorphisms of microsomal epoxide hydrolase (EPHX1) and infant birthweight].

Wu D et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 2001

[STR polymorphisms in five Chinese ethnic groups(2)].

Li SB et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 2000

[DNA polymorphisms and haplotypes in the apoAI-CIII gene region and coronary heart disease].

Meng X et al.

Yi Chuan Xue Bao = Acta Genetica Sinica, 1990

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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."