Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.I448V
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ABCC2

NM_000392.5:p.I448V

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

Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene.

Jiang J et al.

Chinese Medical Journal, 2017

Identification of basic residues involved in drug export function of human multidrug resistance-associated protein 2.

Ryu S et al.

The Journal of Biological Chemistry, 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."