Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.Y555N
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SLC4A1

NM_000342.4:p.Y555N

Associated Papers

Topology models of anion exchanger 1 that incorporate the anti-parallel V-shaped motifs found in the EM structure.

Hirai T et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2011

Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.

Cheung JC et al.

The Biochemical Journal, 2005

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

Quilty JA et al.

American Journal of Physiology. Renal Physiology, 2002

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

Quilty JA et al.

Traffic (copenhagen, Denmark), 2000

Processing of N-linked oligosaccharide depends on its location in the anion exchanger, AE1, membrane glycoprotein.

Li J et al.

The Biochemical Journal, 2000

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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."