Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.D676Y
Back to variants list

ABCB11

NM_003742.4:p.D676Y

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

Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

Vitale G et al.

International Journal of Molecular Sciences, 2023

Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.

Nayagam JS et al.

Alimentary Pharmacology & Therapeutics, 2020

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

Telbisz Á et al.

Expert Opinion on Therapeutic Targets, 2016

Effect of drug transporter pharmacogenetics on cholestasis.

Dietrich CG et al.

Expert Opinion on Drug Metabolism & Toxicology, 2014

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

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Impact of drug transporter pharmacogenomics on pharmacokinetic and pharmacodynamic variability - considerations for drug development.

Lai Y et al.

Expert Opinion on Drug Metabolism & Toxicology, 2012

Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis.

Stieger B et al.

Expert Opinion on Drug Metabolism & Toxicology, 2011

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Gut, 2009

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.

Lang C et al.

Pharmacogenetics and Genomics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."