Varaico: Literature-Extracted Genetic Variants

Gene:ABCC1
Variant:p.R633Q
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ABCC1

NM_004996.4:p.R633Q

Associated Papers

The influence of naturally occurring and in silico-informed mutations of MRP1/ABCC1 on the transport of arsenic triglutathione.

Li W et al.

Chemico-biological Interactions, 2026

Structural and functional implications of ABCC1 variants on clinical statin response.

Crispim Tropéia N et al.

Journal of Biomolecular Structure & Dynamics, 2025

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

35631530 (PubMed )
Supplement: pharmaceutics-14-00944-s001.zip › pharmaceutics-1634615-supplementary.pdf

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

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

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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1-MRP1) in the Polish population.

Słomka M et al.

Bmc Genetics, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504

Non-coding polymorphisms in nucleotide binding domain 1 in ABCC1 gene associate with transcript level and survival of patients with breast cancer.

Kunická T et al.

Plos One, 2014

Two polymorphic variants of ABCC1 selectively alter drug resistance and inhibitor sensitivity of the multidrug and organic anion transporter multidrug resistance protein 1.

Conseil G et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2013

Multidrug resistance-associated protein 1 (MRP1/ABCC1) polymorphism: from discovery to clinical application.

Yin J et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2011

Pharmacogenetics of membrane transporters: a review of current approaches.

Sissung TM et al.

Methods in Molecular Biology (clifton, N.j.), 2008

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

Cascorbi I

Pharmacology & Therapeutics, 2006

Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1).

Létourneau IJ et al.

Pharmacogenetics and Genomics, 2005

Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.

Conseil G et al.

Pharmacogenetics and Genomics, 2005

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux O et al.

Nature Genetics, 2000

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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."