Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B3
Variant:p.G583Splc
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SLCO1B3

NM_019844.4:p.G583Splc

Associated Papers

Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).

Zheng S et al.

Journal of Clinical and Translational Hepatology, 2026

A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a SLCO1B1 and SLCO1B3 gene mutations patient.

Lin LZ et al.

Heliyon, 2024

[Clinical characteristics and genetic analysis of four children with Rotor syndrome].

Tan Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.

Cheng YY et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2023

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype.

Zhou D et al.

Frontiers in Genetics, 2019

OATP1B3 (699G>A) and CYP2C9*2, *3 significantly influenced the transport and metabolism of glibenclamide and glipizide.

Yang F et al.

Scientific Reports, 2018

Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.

Kagawa T et al.

Human Mutation, 2015

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

van de Steeg E et al.

The Journal of Clinical Investigation, 2012

Identification of novel functional organic anion-transporting polypeptide 1B3 polymorphisms and assessment of substrate specificity.

Schwarz UI et al.

Pharmacogenetics and Genomics, 2011

Ethnic differences in drug metabolism and toxicity from chemotherapy.

Phan VH et al.

Expert Opinion on Drug Metabolism & Toxicology, 2009

Overexpression of OATP1B3 confers apoptotic resistance in colon cancer.

Lee W et al.

Cancer Research, 2008

The functional consequences of genetic variations in transporter genes encoding human organic anion-transporting polypeptide family members.

Seithel A et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

Variants in the SLCO1B3 gene: interethnic distribution and association with paclitaxel pharmacokinetics.

Smith NF et al.

Clinical Pharmacology and Therapeutics, 2007

Mutations in the SLCO1B3 gene affecting the substrate specificity of the hepatocellular uptake transporter OATP1B3 (OATP8).

Letschert K et al.

Pharmacogenetics, 2004

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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."