Varaico: Literature-Extracted Genetic Variants

Gene:RNF19A
Variant:p.C132S
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RNF19A

NM_183419.4:p.C132S

Associated Papers

Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity.

Ishigaki S et al.

Neurobiology of Disease, 2007

Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders.

Ishigaki S et al.

The Journal of Biological Chemistry, 2004

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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."