Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.N333S
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SLC2A9

NM_020041.3:p.N333S

Associated Papers

Renal Hypouricemia Type 2 due to a Novel Homozygous SLC2A9 Variant: Exercise-Induced Acute Kidney Injury in One of Two Affected Siblings.

Pezantes I et al.

Nephrology (carlton, Vic.), 2026

Structural basis of urate transport by glucose transporter 9.

Matsushita D et al.

Cell Reports, 2025

Structural basis of disease mutation and substrate recognition by the human SLC2A9 transporter.

Khandelwal NK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

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

Zhou J et al.

Bmc Nephrology, 2023

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

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

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."