Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.S762R
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SLC4A1

NM_000342.4:p.S762R

Associated Papers

Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.

Allegrini B et al.

Blood Cells, Molecules & Diseases, 2023

An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.

Ghaderi S et al.

Pharmacology & Therapeutics, 2023

Borate Transporters and SLC4 Bicarbonate Transporters Share Key Functional Properties.

Beltran JL et al.

Membranes, 2023

Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.

Jennings ML

American Journal of Physiology. Cell Physiology, 2021

The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Flatt JF et al.

Frontiers in Physiology, 2018

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Reithmeier RA et al.

Biochimica Et Biophysica Acta, 2016

Crystal structure of the anion exchanger domain of human erythrocyte band 3.

Arakawa T et al.

Science (new York, N.y.), 2015

Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.

Frumence E et al.

American Journal of Physiology. Cell Physiology, 2013

South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.

Guizouarn H et al.

British Journal of Haematology, 2011

Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.

Barneaud-Rocca D et al.

International Journal of Cell Biology, 2011

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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."