Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.V282I
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SLC2A9

NM_020041.3:p.V282I

Associated Papers

Preliminary analysis of lifestyle and genetic factors for hyperuricemia and gout prevalence in the Yunnan Miao population of China.

Li Q et al.

Frontiers in Genetics, 2026

Association of Functional Genetic Variations in Uric Acid Transporters with the Risk of Idiopathic Male Infertility: A Genetic Association Study and Bioinformatic Analysis.

Karimian M et al.

Biochemical Genetics, 2025

Single Nucleotide Variants of the SLC2A9 Gene Are Associated with Hyperuricemia in Mexican Patients with Type 2 Diabetes.

Vázquez-Rivera GE et al.

Archives of Medical Research, 2025

Red blood cell urate levels are linked to hemolysis in vitro and post-transfusion as a function of donor sex, population and genetic polymorphisms in SLC2A9 and ABCG2.

Key AM et al.

Transfusion, 2025

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.

Vávra J et al.

Disease Markers, 2024

Pharmacogenetics of anxiety and depression in Alzheimer's disease.

Cacabelos R et al.

Pharmacogenomics, 2023

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Stiburkova B et al.

Biomedicines, 2021

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.

Toyoda Y et al.

International Journal of Molecular Sciences, 2021

Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Pavelcova K et al.

Journal of Clinical Medicine, 2020

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2019

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.

Vidanapathirana DM et al.

Bmc Pediatrics, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.

Mancikova A et al.

Clinical and Experimental Nephrology, 2016

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.

Kostalova E et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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-A2-A0EM-01A.domain

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration.

Stibůrková B et al.

Plos One, 2014

Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.

Hurba O et al.

Plos One, 2014

Acute kidney injury in two children caused by renal hypouricaemia type 2.

Stiburkova B et al.

Pediatric Nephrology (berlin, Germany), 2012

Changes in uric acid levels following bariatric surgery are not associated with SLC2A9 variants in the Swedish Obese Subjects Study.

Sarzynski MA et al.

Plos One, 2012

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

Vitart V et al.

Nature Genetics, 2008

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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."