Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.R1174H
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ABCC2

NM_000392.5:p.R1174H

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Wu L et al.

Orphanet Journal of Rare Diseases, 2020

32183854 (PubMed )
Supplement: 13023_2020_1346_MOESM1_ESM.docx

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.

Arlanov R et al.

Human Mutation, 2012

The apical conjugate efflux pump ABCC2 (MRP2).

Nies AT et al.

Pflugers Archiv : European Journal of Physiology, 2007

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

Cascorbi I

Pharmacology & Therapeutics, 2006

Polymorphisms in the ABCC2 (cMOAT/MRP2) gene found in 72 established cell lines derived from Japanese individuals: an association between single nucleotide polymorphisms in the 5'-untranslated region and exon 28.

Itoda M et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2002

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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."