Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A2
Variant:p.Q448R
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SLC5A2

NM_003041.4:p.Q448R

Associated Papers

Familial Renal Glucosuria and Potential Pharmacogenetic Impact on Sodium-Glucose Cotransporter-2 Inhibitors.

Allaire P et al.

Kidney360, 2025

39412882 (PubMed )
Supplement: kidney360-6-521-s005.xlsx › Table_S2._SLC5A2_Variants

Genetic and clinical characterization of familial renal glucosuria.

Xu L et al.

Clinical Kidney Journal, 2024

Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.

Ren Q et al.

Journal of Diabetes, 2022

35229480 (PubMed )
Supplement: JDB-14-216-s001.xlsx › Sheet1

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

Wang S et al.

Frontiers in Genetics, 2020

A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.

Li S et al.

Molecular Medicine Reports, 2019

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.

Zhao X et al.

Scientific Reports, 2016

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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."