Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.H50R
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SNCA

NM_000345.4:p.H50R

Associated Papers

Copper(II) and the pathological H50Q α-synuclein mutant: Environment meets genetics.

Villar-Piqué A et al.

Communicative & Integrative Biology, 2017

Posttranslational modification and mutation of histidine 50 trigger alpha synuclein aggregation and toxicity.

Xiang W et al.

Molecular Neurodegeneration, 2015

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."