Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.R294H
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SLC2A9

NM_020041.3:p.R294H

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

Clinical and Genetic Analysis of a Female Patient With Adolescent-Onset Gout.

Li X et al.

The Journal of Rheumatology, 2025

Structural basis of urate transport by glucose transporter 9.

Matsushita D et al.

Cell Reports, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

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

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

Stiburkova B et al.

Biomedicines, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

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

Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Teng L et al.

Annals of Translational Medicine, 2020

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

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2019

31131560 (PubMed )
Supplement: MGG3-7-e00722-s002.xlsx › sheet_2

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

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.

Stiburkova B et al.

Arthritis Research & Therapy, 2019

Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

Yasukochi Y et al.

Molecular Genetics and Genomics : Mgg, 2018

29124443 (PubMed )
Supplement: 438_2017_1394_MOESM4_ESM.pdf

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-A04Y-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

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."