Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.G216R
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SLC2A9

NM_020041.3:p.G216R

Associated Papers

Structural basis of urate transport by glucose transporter 9.

Matsushita D et al.

Cell Reports, 2025

Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.

Toyoda Y et al.

Human Cell, 2024

Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.

Quinlivan R et al.

Neuromuscular Disorders : Nmd, 2024

Renal hypouricemia type 2 with SLC2A9 compound heterozygous variants: a case report of recurrent acute kidney injury triggered by low-intensity exercise.

Paladugu NR et al.

Frontiers in Nephrology, 2024

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

Zhou J et al.

Bmc Nephrology, 2023

New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.

Perdomo-Ramírez A et al.

Genes, 2023

Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child.

Fernando PMS et al.

Laboratory Medicine, 2023

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD3

Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2.

Maalouli C et al.

Case Reports in Nephrology, 2021

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

Ruiz A et al.

Frontiers in Physiology, 2018

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

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

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

Peris Vidal A et al.

Nefrologia, 0

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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."