Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.D705Y
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SLC4A1

NM_000342.4:p.D705Y

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

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

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S et al.

British Journal of Haematology, 2020

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

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

Structural model of the anion exchanger 1 (SLC4A1) and identification of transmembrane segments forming the transport site.

Barneaud-Rocca D et al.

The Journal of Biological Chemistry, 2013

Three-dimensional model for the human Cl-/HCO3- exchanger, AE1, by homology to the E. coli ClC protein.

Bonar P et al.

Journal of Molecular Biology, 2013

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

Dual transport properties of anion exchanger 1: the same transmembrane segment is involved in anion exchange and in a cation leak.

Barneaud-Rocca D et al.

The Journal of Biological Chemistry, 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

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.

Walsh S et al.

American Journal of Physiology. Renal Physiology, 2008

Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance.

Guizouarn H et al.

Blood, 2007

The molecular basis of hereditary red cell membrane disorders.

Delaunay J

Blood Reviews, 2007

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.

Bruce LJ et al.

Nature Genetics, 2005

Mutations in band 3 and cation leaky red cells.

Bruce L

Blood Cells, Molecules & Diseases, 0

Hereditary stomatocytosis and cation-leaky red cells--recent developments.

Bruce LJ

Blood Cells, Molecules & Diseases, 0

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