Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.R93G
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VCP

NM_007126.5:p.R93G

Associated Papers

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

Schieferdecker A et al.

International Journal of Molecular Sciences, 2019

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.

Ritz D et al.

Nature Cell Biology, 2011

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.

Gitcho MA et al.

The Journal of Biological Chemistry, 2009

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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."