Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.E758K
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SLC4A1

NM_000342.4:p.E758K

Associated Papers

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

Ghaderi S et al.

Pharmacology & Therapeutics, 2023

Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.

Marcello AP et al.

Pediatric Blood & Cancer, 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

Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.

Ficici E et al.

The Journal of General Physiology, 2017

Advances in understanding the pathogenesis of the red cell volume disorders.

Badens C et al.

British Journal of Haematology, 2016

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

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.

Stewart AK et al.

American Journal of Physiology. Cell Physiology, 2011

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

Stewart AK et al.

American Journal of Physiology. Cell Physiology, 2011

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

The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.

Stewart AK et al.

American Journal of Physiology. Cell Physiology, 2010

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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."