Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.S725R
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SLC4A1

NM_000342.4:p.S725R

Associated Papers

Etiology and outcomes of primary renal tubular acidosis.

Priyadarshini S et al.

Pediatric Nephrology (berlin, Germany), 2025

Substrate binding and inhibition of the anion exchanger 1 transporter.

Capper MJ et al.

Nature Structural & Molecular Biology, 2023

A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.

Yang E et al.

Blood, 2018

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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."