Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.G796R
Back to variants list

SLC4A1

NM_000342.4:p.G796R

Associated Papers

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.

Cheng J et al.

Frontiers in Pediatrics, 2025

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

Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.

Glenthøj A et al.

Ejhaem, 2021

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.

Flatt JF et al.

Frontiers in Physiology, 2020

Hereditary stomatocytosis: An underdiagnosed condition.

Andolfo I et al.

American Journal of Hematology, 2018

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

Flatt JF et al.

Frontiers in Physiology, 2018

Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1).

Genetet S et al.

Scientific Reports, 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

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

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.

Iolascon A et al.

Haematologica, 2009

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

Bruce LJ

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."