Varaico: Literature-Extracted Genetic Variants

Gene:CA2
Variant:p.E117A
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CA2

NM_000067.3:p.E117A

Associated Papers

Thermodynamic interrogation of a folding disease. Mutant mapping of position 107 in human carbonic anhydrase II linked to marble brain disease.

Almstedt K et al.

Biochemistry, 2008

Selection of carbonic anhydrase variants displayed on phage. Aromatic residues in zinc binding site enhance metal affinity and equilibration kinetics.

Hunt JA et al.

The Journal of Biological Chemistry, 1997

Reversal of the hydrogen bond to zinc ligand histidine-119 dramatically diminishes catalysis and enhances metal equilibration kinetics in carbonic anhydrase II.

Huang CC et al.

Biochemistry, 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."