Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.Q558H
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ABCB11

NM_003742.4:p.Q558H

Associated Papers

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Bell EL et al.

Journal of Lipid Research, 2025

40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1

Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.

Liu H et al.

Nature Communications, 2023

The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy.

Piątek K et al.

Ginekologia Polska, 2018

Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.

Telbisz Á et al.

Expert Opinion on Therapeutic Targets, 2016

ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.

Anzivino C et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013

The bile salt export pump (BSEP) in health and disease.

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

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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."