Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A1
Variant:p.R342H
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SLC22A1

NM_003057.3:p.R342H

Associated Papers

The full spectrum of OCT1 (SLC22A1) mutations bridges transporter biophysics to drug pharmacogenomics.

Yee SW et al.

Biorxiv : the Preprint Server for Biology, 2023

37333090 (PubMed )
Supplement: media-2.xlsx › S2_gnomAD_v2.1

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C et al.

Pharmaceutics, 2022

35631530 (PubMed )
Supplement: pharmaceutics-14-00944-s001.zip › pharmaceutics-1634615-supplementary.pdf

Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Pernaute-Lau L et al.

Antimicrobial Agents and Chemotherapy, 2021

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Schaller L et al.

Human Genetics, 2019

Effects of SLC22A1 Polymorphisms on Metformin-Induced Reductions in Adiposity and Metformin Pharmacokinetics in Obese Children With Insulin Resistance.

Sam WJ et al.

Journal of Clinical Pharmacology, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1.

Seitz T et al.

Genome Medicine, 2015

Role of the plasma membrane transporter of organic cations OCT1 and its genetic variants in modern liver pharmacology.

Lozano E et al.

Biomed Research International, 2013

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

Fahrmayr C et al.

Drug Metabolism Reviews, 2010

Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver.

Nies AT et al.

Hepatology (baltimore, Md.), 2009

Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.

Avery P et al.

Pharmacogenomics and Personalized Medicine, 2009

Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1.

Shu Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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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."