Varaico: Literature-Extracted Genetic Variants

Gene:SLCO1B1
Variant:p.L643F
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SLCO1B1

NM_006446.5:p.L643F

Associated Papers

Long-Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants.

Samarasinghe SR et al.

Clinical Pharmacology and Therapeutics, 2026

Intrinsic Factors Influencing Simvastatin and Simvastatin Acid Pharmacokinetics: Age-Related Studies in Thai Adults and Cross-Population Comparisons.

Srimatimanon T et al.

Clinical and Translational Science, 2026

Unveiling hidden risks: pharmacogenetic insights from a cross-sectional study of statin therapy in the Indian population.

Naushad SM et al.

Pharmacological Reports : Pr, 2025

Identification of Genetic Variants Associated with Pravastatin and Pitavastatin Pharmacokinetics.

Mykkänen AJH et al.

Clinical Pharmacology and Therapeutics, 2025

Genome-Wide Association Study of Atorvastatin Pharmacokinetics: Associations With SLCO1B1, UGT1A3, and LPP.

Mykkänen AJH et al.

Clinical Pharmacology and Therapeutics, 2024

SLCO1B1 Exome Sequencing and Statin Treatment Response in 64,000 UK Biobank Patients.

Türkmen D et al.

International Journal of Molecular Sciences, 2024

Non-targeted metabolomics for the identification of plasma metabolites associated with organic anion transporting polypeptide 1B1 function.

Hämäläinen K et al.

Clinical and Translational Science, 2024

A gene risk score using missense variants in SLCO1B1 is associated with earlier onset statin intolerance.

Bigossi M et al.

European Heart Journal. Cardiovascular Pharmacotherapy, 2023

Characterization of Bile Acid Sulfate Conjugates as Substrates of Human Organic Anion Transporting Polypeptides.

Orozco CC et al.

Molecular Pharmaceutics, 2023

PharmVar GeneFocus: SLCO1B1.

Ramsey LB et al.

Clinical Pharmacology and Therapeutics, 2023

The pharmacogenomic landscape of an Indigenous Australian population.

Samarasinghe SR et al.

Frontiers in Pharmacology, 2023

37284308 (PubMed )
Supplement: Table3.xlsx › HGMD-ClinVar_14_known_variants

Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Yang W et al.

Jama Network Open, 2022

36580335 (PubMed )
Supplement: jamanetwopen-e2248803-s001.pdf

Genomewide Association Study of Simvastatin Pharmacokinetics.

Mykkänen AJH et al.

Clinical Pharmacology and Therapeutics, 2022

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

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

Performance of Plasma Coproporphyrin I and III as OATP1B1 Biomarkers in Humans.

Neuvonen M et al.

Clinical Pharmacology and Therapeutics, 2021

SLCO1B1: Application and Limitations of Deep Mutational Scanning for Genomic Missense Variant Function.

Zhang L et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2021

Identification of Glycochenodeoxycholate 3-O-Glucuronide and Glycodeoxycholate 3-O-Glucuronide as Highly Sensitive and Specific OATP1B1 Biomarkers.

Neuvonen M et al.

Clinical Pharmacology and Therapeutics, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genetic Diversity in Drug Transporters: Impact in African Populations.

Rajman I et al.

Clinical and Translational Science, 2020

32100958 (PubMed )
Supplement: CTS-13-848-s002.docx

Genetic polymorphisms of human hepatic OATPs: functional consequences and effect on drug pharmacokinetics.

Nie Y et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2020

Enantiospecific Pharmacogenomics of Fluvastatin.

Hirvensalo P et al.

Clinical Pharmacology and Therapeutics, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

An African-specific profile of pharmacogene variants for rosuvastatin plasma variability: limited role for SLCO1B1 c.521T>C and ABCG2 c.421A>C.

Soko ND et al.

The Pharmacogenomics Journal, 2019

Genetic variability and population diversity of the human SLCO (OATP) transporter family.

Zhang B et al.

Pharmacological Research, 2019

A cost effective RFLP method to genotype Solute carrier organic anion 1B1 (SLCO1B1) c.1929A>C (p.Leu643Phe, rs34671512); a variant with potential effect on rosuvastatin pharmacokinetics.

Soko ND et al.

Bmc Research Notes, 2018

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM3_ESM.xlsx › Sheet1

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5o

Interindividual and interethnic variability in drug disposition: polymorphisms in organic anion transporting polypeptide 1B1 (OATP1B1; SLCO1B1).

Lee HH et al.

British Journal of Clinical Pharmacology, 2017

Mapping SLCO1B1 Genetic Variation for Global Precision Medicine in Understudied Regions in Africa: A Focus on Zulu and Cape Admixed Populations.

Hoosain N et al.

Omics : a Journal of Integrative Biology, 2016

More Power to OATP1B1: An Evaluation of Sample Size in Pharmacogenetic Studies Using a Rosuvastatin PBPK Model for Intestinal, Hepatic, and Renal Transporter-Mediated Clearances.

Emami Riedmaier A et al.

Journal of Clinical Pharmacology, 2016

Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

Grapci AD et al.

Balkan Journal of Medical Genetics : Bjmg, 2015

OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis.

Tamraz B et al.

Pharmacogenetics and Genomics, 2013

Influence of the functional polymorphisms in the organic anion transporting polypeptide 1B1 in the susceptibility to colorectal cancer.

Ozhan G et al.

Genetic Testing and Molecular Biomarkers, 2013

Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1.

Nies AT et al.

Genome Medicine, 2013

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

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition.

Ramsey LB et al.

Genome Research, 2012

Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake.

Niemi M et al.

Pharmacological Reviews, 2011

Hepatic OATP and OCT uptake transporters: their role for drug-drug interactions and pharmacogenetic aspects.

Fahrmayr C et al.

Drug Metabolism Reviews, 2010

Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy.

Furihata T et al.

The Pharmacogenomics Journal, 2009

Identification of multidrug and toxin extrusion (MATE1 and MATE2-K) variants with complete loss of transport activity.

Kajiwara M et al.

Journal of Human Genetics, 2009

Comparison of SLCO1B1 sequence variability among German, Turkish, and African populations.

Mwinyi J et al.

European Journal of Clinical Pharmacology, 2008

Non-synonymous polymorphisms in the human SLCO1B1 gene: an in vitro analysis of SNP c.1929A>C.

Seithel A et al.

Molecular Genetics and Genomics : Mgg, 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

Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population.

Pasanen MK et al.

European Journal of Clinical Pharmacology, 2006

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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."