Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.S731C
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SLC4A1

NM_000342.4:p.S731C

Associated Papers

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

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

Cysteine-directed cross-linking localizes regions of the human erythrocyte anion-exchange protein (AE1) relative to the dimeric interface.

Taylor AM et al.

The Biochemical Journal, 2001

Topology of the membrane domain of human erythrocyte anion exchange protein, AE1.

Fujinaga J et al.

The Journal of Biological Chemistry, 1999

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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."