Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.R380W
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SLC2A9

NM_020041.3:p.R380W

Associated Papers

Structural basis of urate transport by glucose transporter 9.

Matsushita D et al.

Cell Reports, 2025

Structural basis for urate recognition and apigenin inhibition of human GLUT9.

Shen Z et al.

Nature Communications, 2024

Donor-Derived Hereditary Renal Hypouricemia.

Sulaiman S et al.

Kidney International Reports, 2024

Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.

Zhou J et al.

Bmc Nephrology, 2023

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

Perdomo-Ramirez A et al.

International Journal of Molecular Sciences, 2023

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Yoon J et al.

Biomedicines, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.

Ruiz A et al.

Frontiers in Physiology, 2018

The Single Nucleotide Polymorphism rs1014290 of the SLC2A9 Gene Is Associated with Uric Acid Metabolism in Parkinson's Disease.

Miao J et al.

Parkinson's Disease, 2017

Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.

Matsuo H et al.

Annals of the Rheumatic Diseases, 2016

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.

Shen H et al.

Bmc Pediatrics, 2014

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Jeannin G et al.

Bmc Medical Genetics, 2014

Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.

Chiba T et al.

Nucleosides, Nucleotides & Nucleic Acids, 2014

No association between MTHFR C677T and serum uric acid levels among Japanese with ABCG2 126QQ and SLC22A12 258WW.

Hinohara Y et al.

Nagoya Journal of Medical Science, 2013

A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.

Ochi A et al.

Clinical and Experimental Nephrology, 2012

Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).

Kawamura Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population.

Hamajima N et al.

Molecular Genetics and Metabolism, 2011

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

Stiburkova B et al.

Molecular Genetics and Metabolism, 2011

Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.

Hamajima N et al.

Bmc Medical Genetics, 2011

The protein family of glucose transport facilitators: It's not only about glucose after all.

Augustin R

Iubmb Life, 2010

Solute carrier family 2, member 9 and uric acid homeostasis.

Cheeseman C

Current Opinion in Nephrology and Hypertension, 2009

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

Matsuo H et al.

American Journal of Human Genetics, 2008

[Hereditary tumor].

Miki Y et al.

Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1997

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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."