Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.H50D
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SNCA

NM_000345.4:p.H50D

Associated Papers

Copper ion incorporation in α-synuclein amyloids.

Walke G et al.

Protein Science : a Publication of the Protein Society, 2024

The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

Porcari R et al.

The Journal of Biological Chemistry, 2015

Residue histidine 50 plays a key role in protecting α-synuclein from aggregation at physiological pH.

Chi YC et al.

The Journal of Biological Chemistry, 2014

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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."