Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A1
Variant:p.M420del1
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SLC22A1

NM_003057.3:p.M420del1

Associated Papers

Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.

Krishnan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646814 (PubMed )
Supplement: media-2.xlsx › Table_S4

Pharmacogenomics in Diabetes: Population-Specific Insights from Colombia.

Hernandez-Paez DA et al.

Journal of Personalized Medicine, 2025

41149843 (PubMed )
Supplement: jpm-15-00481-s001.zip › Supplementary_Material_S1.xlsx › Sheet1

Pharmacogenetics and Molecular Ancestry of SLC22A1, SLC22A2, SLC22A3, ABCB1, CYP2C8, CYP2C9, and CYP2C19 in Ecuadorian Subjects with Type 2 Diabetes Mellitus.

Ortega-Ayala A et al.

Pharmaceuticals (basel, Switzerland), 2025

41011206 (PubMed )
Supplement: pharmaceuticals-18-01335-s001.zip › pharmaceuticals-3834233-supplementary › Table_S7.pdf

Molecular Ancestry Across Allelic Variants of SLC22A1, SLC22A2, SLC22A3, ABCB1, CYP2C8, CYP2C9, and CYP2C19 in Mexican-Mestizo DMT2 Patients.

Ortega-Ayala A et al.

Biomedicines, 2025

40426982 (PubMed )
Supplement: biomedicines-13-01156-s001.zip › Table_S1.pdf

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

Tramadol-related fatalities: Metabolic ratios & SNPs/INDELs belonging to UGT1A8, UGT2B7, ABCC2, and SLC22A1.

Aly SM et al.

Forensic Science International. Genetics, 2025

Genetic Variants of SLC22A1 rs628031 and rs622342 and Glycemic Control in T2DM Patients from Northern Mexico.

Moreno-González JG et al.

Genes, 2025

Sex-Dependent Effects of CYP2D6 on the Pharmacokinetics of Berberine in Humans.

Blöcher JA et al.

Clinical Pharmacology and Therapeutics, 2025

Insights Into Genetic Variations of the OCT1 Gene in Metformin Poor Responders Among Bangladeshi Type 2 Diabetic Patients.

Begum R et al.

Advances in Pharmacological and Pharmaceutical Sciences, 2025

Metformin efficacy and tolerance according to genetic polymorphisms of organic cation transporter 1 in Tunisian patients with type 2 diabetes.

Chaker F et al.

Frontiers in Endocrinology, 2025

Effect of SLC22A1 polymorphism on the pharmacokinetics of proguanil in Korean: A semi-physiologic population pharmacokinetic approach.

Khwarg J et al.

Clinical and Translational Science, 2024

39668580 (PubMed )
Supplement: CTS-17-e70103-s001.pdf

Impact of SLC22A1 variants rs622342 and rs72552763 on HbA1c and metformin plasmatic concentration levels in patients with type 2 diabetes mellitus.

Ortega-Ayala A et al.

Biomedical Reports, 2024

The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics.

Yee SW et al.

Molecular Cell, 2024

Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian population.

Sivadas A et al.

Bmj Open Diabetes Research & Care, 2024

38471670 (PubMed )
Supplement: bmjdrc-2023-003769supp001.pdf

The SNP rs460089 in the gene promoter of the drug transporter OCTN1 has prognostic value for treatment-free remission in chronic myeloid leukemia patients treated with imatinib.

Machova Polakova K et al.

Leukemia, 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

Association of SLC22A1, SLC47A1, and KCNJ11 polymorphisms with efficacy and safety of metformin and sulfonylurea combination therapy in Egyptian patients with type 2 diabetes.

Ahmed A et al.

Research in Pharmaceutical Sciences, 2023

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

Yee SW et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Association of Met420del Variant of Metformin Transporter Gene SLC22A1 with Metformin Treatment Response in Ethiopian Patients with Type 2 Diabetes.

Degaga A et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2023

Rescue of Misfolded Organic Cation Transporter 3 Variants.

Angenoorth TJF et al.

Cells, 2022

Atypical Substrates of the Organic Cation Transporter 1.

Redeker KM et al.

Biomolecules, 2022

Hepatic solute carrier transporters and drug therapy: Regulation of expression and impact of genetic variation.

Nies AT et al.

Pharmacology & Therapeutics, 2022

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Zhou Y et al.

Human Genetics, 2022

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

Dagli-Hernandez C et al.

Pharmaceutics, 2022

Genetic variants in SLC22A1 are related to serum lipid levels in Mexican women.

Cahua-Pablo JÁ et al.

Lipids, 2022

Pharmacogenetics of Drugs Used in the Treatment of Cancers.

Franczyk B et al.

Genes, 2022

No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients.

Kuhlmann I et al.

Basic & Clinical Pharmacology & Toxicology, 2022

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table1.xlsx › Hoja1

Association of SLC22A1,SLCO1B3 Drug Transporter Polymorphisms and Smoking with Disease Risk and Cytogenetic Response to Imatinib in Patients with Chronic Myeloid Leukemia.

Mohammadi F et al.

Laboratory Medicine, 2021

Characterization of cytochrome P450 (CYP) 2D6 drugs as substrates of human organic cation transporters and multidrug and toxin extrusion proteins.

Neul C et al.

British Journal of Pharmacology, 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

Expansion of Knowledge on OCT1 Variant Activity In Vitro and In Vivo Using Oct1/2-/- Mice.

Morse BL et al.

Frontiers in Pharmacology, 2021

Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1.

Römer S et al.

Frontiers in Pharmacology, 2021

Isobutyrylcarnitine as a Biomarker of OCT1 Activity and Interspecies Differences in its Membrane Transport.

Jensen O et al.

Frontiers in Pharmacology, 2021

Effects of Genetic Polymorphism in CYP2D6, CYP2C19, and the Organic Cation Transporter OCT1 on Amitriptyline Pharmacokinetics in Healthy Volunteers and Depressive Disorder Patients.

Matthaei J et al.

Frontiers in Pharmacology, 2021

The Genetics of Adverse Drug Outcomes in Type 2 Diabetes: A Systematic Review.

Baye AM et al.

Frontiers in Genetics, 2021

The Impact of Genetic Polymorphisms in Organic Cation Transporters on Renal Drug Disposition.

Zazuli Z et al.

International Journal of Molecular Sciences, 2020

Influence of MRP3 Genetics and Hepatic Expression Ontogeny for Morphine Disposition in Neonatal and Pediatric Patients.

Hahn D et al.

Journal of Clinical Pharmacology, 2020

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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."