Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.H834P
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SLC4A1

NM_000342.4:p.H834P

Associated Papers

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

Jennings ML

American Journal of Physiology. Cell Physiology, 2021

Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.

De Vecchis D et al.

Biophysical Journal, 2019

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

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Yenchitsomanus PT et al.

Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005

Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.

Zhu Q et al.

The Journal of Biological Chemistry, 2003

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.

Quilty JA et al.

Traffic (copenhagen, Denmark), 2000

Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.

Jarolim P et al.

Blood, 1996

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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."