Varaico: Literature-Extracted Genetic Variants

Gene:KLHL1
Variant:p.N484Y
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KLHL1

NM_020866.3:p.N484Y

Associated Papers

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

Functional analysis of nonsynonymous single nucleotide polymorphisms of multidrug resistance-associated protein 2 (ABCC2).

Megaraj V et al.

Pharmacogenetics and Genomics, 2011

Genetic variation in metabolizing enzyme and transporter genes: comprehensive assessment in 3 major East Asian subpopulations with comparison to Caucasians and Africans.

Man M et al.

Journal of Clinical Pharmacology, 2010

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."