Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.L503F
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SLC22A4

NM_003059.3:p.L503F

Associated Papers

Dissecting the Genetic Architecture of Intracranial Aneurysms.

Adkar SS et al.

Circulation. Genomic and Precision Medicine, 2025

40255156 (PubMed )
Supplement: circcvg-2024-004626-t-s02.xlsx › Table_9

Contrastive sequence signatures between the both sides of a recombination spot reveal an adaptation at PPARD locus from standing variation for pleiotropy since out-of-Africa dispersal.

Shou W et al.

Bmc Genomics, 2025

40307732 (PubMed )
Supplement: 12864_2025_11620_MOESM2_ESM.xlsx › TS5

Carnitine traffic and human fertility.

Mazza T et al.

Biochemical Pharmacology, 2024

VCAT: an integrated variant function annotation tools.

Huang B et al.

Human Genetics, 2024

Exome Sequence Data of Eight SLC Transporters Reveal That SLC22A1 and SLC22A3 Variants Alter Metformin Pharmacokinetics and Glycemic Control.

Morales-Rivera MI et al.

Pharmaceuticals (basel, Switzerland), 2024

Atomistic description of the OCTN1 recognition mechanism via in silico methods.

Ben Mariem O et al.

Plos One, 2024

Impact of genetic variants in the solute carrier (SLC) genes encoding drug uptake transporters on the response to anticancer chemotherapy.

Marin JJG et al.

Cancer Drug Resistance (alhambra, Calif.), 2024

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S5

The Role of Organic Cation Transporters in the Pharmacokinetics, Pharmacodynamics and Drug-Drug Interactions of Tyrosine Kinase Inhibitors.

Xiu F et al.

International Journal of Molecular Sciences, 2023

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Lack of impact of OCTN1 gene polymorphisms on clinical outcomes of gabapentinoids in Pakistani patients with neuropathic pain.

Shaheen A et al.

Plos One, 2022

Functional screen of inflammatory bowel disease genes reveals key epithelial functions.

Ntunzwenimana JC et al.

Genome Medicine, 2021

34758847 (PubMed )
Supplement: 13073_2021_996_MOESM2_ESM.docx

Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men.

Meisel P et al.

Clinical Oral Investigations, 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

Transporter tandems: precise tools for normalizing active transporter in the plasma membrane.

Tschirka J et al.

The Biochemical Journal, 2020

33073844 (PubMed )
Supplement: supplement_1.pdf

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

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

Schaller L et al.

Human Genetics, 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

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Park SC et al.

Cells, 2019

Pharmacogenetics-based population pharmacokinetic analysis of gabapentin in patients with chronic pain: Effect of OCT2 and OCTN1 gene polymorphisms.

Yamamoto PA et al.

Basic & Clinical Pharmacology & Toxicology, 2019

Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Lozano E et al.

Journal of Personalized Medicine, 2018

Recent advance in the pharmacogenomics of human Solute Carrier Transporters (SLCs) in drug disposition.

Zhou F et al.

Advanced Drug Delivery Reviews, 2017

Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta-Analysis.

Dujic T et al.

Clinical Pharmacology and Therapeutics, 2017

Association study between OCTN1 functional haplotypes and Crohn's disease in a Korean population.

Jung ES et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2017

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_16

L503F variant of carnitine/organic cation transporter 1 efficiently transports metformin and other biguanides.

Futatsugi A et al.

The Journal of Pharmacy and Pharmacology, 2016

Pharmacogenetics of BCR/ABL Inhibitors in Chronic Myeloid Leukemia.

Polillo M et al.

International Journal of Molecular Sciences, 2015

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain

Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.

Bavarva JH et al.

Oncotarget, 2014

24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf

Identification and Functional Characterization of Novel Genetic Variations in the OCTN1 Promoter.

Park HJ et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2014

Genetic variants in the JAK1 gene confer higher risk of Behcet's disease with ocular involvement in Han Chinese.

Hou S et al.

Human Genetics, 2013

NOD2 mutations affect muramyl dipeptide stimulation of human B lymphocytes and interact with other IBD-associated genes.

Lin Z et al.

Digestive Diseases and Sciences, 2013

Functional analysis of novel variants in the organic cation/ergothioneine transporter 1 identified in Singapore populations.

Toh DS et al.

Molecular Pharmaceutics, 2013

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health.

Shekhawat PS et al.

Journal of Crohn's & Colitis, 2013

Influences of organic cation transporter polymorphisms on the population pharmacokinetics of metformin in healthy subjects.

Yoon H et al.

The Aaps Journal, 2013

Gene genealogies for genetic association mapping, with application to Crohn's disease.

Burkett KM et al.

Frontiers in Genetics, 2013

Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.

Wang MH et al.

Inflammatory Bowel Diseases, 2012

Single-nucleotide polymorphisms in inflammatory bowel disease.

Neuman MG et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2012

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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."