Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.E558Q
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ABCB4

NM_000443.4:p.E558Q

Associated Papers

Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.

Delaunay JL et al.

International Journal of Molecular Sciences, 2023

Structure of the human lipid exporter ABCB4 in a lipid environment.

Olsen JA et al.

Nature Structural & Molecular Biology, 2020

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Andress EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2017

A mutation within the extended X loop abolished substrate-induced ATPase activity of the human liver ATP-binding cassette (ABC) transporter MDR3.

Kluth M et al.

The Journal of Biological Chemistry, 2015

Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

Andress EJ et al.

Hepatology (baltimore, Md.), 2014

Detergent screening and purification of the human liver ABC transporters BSEP (ABCB11) and MDR3 (ABCB4) expressed in the yeast Pichia pastoris.

Ellinger P et al.

Plos One, 2013

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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."