Varaico: Literature-Extracted Genetic Variants

Gene:PSMD2
Variant:p.S88T
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PSMD2

NM_002808.5:p.S88T

Associated Papers

Multisystem Proteinopathy Mutations in VCP/p97 Increase NPLOC4·UFD1L Binding and Substrate Processing.

Blythe EE et al.

Structure (london, England : 1993), 2019

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants.

Tang WK et al.

The Journal of Biological Chemistry, 2013

A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.

Tang WK et al.

The Embo Journal, 2010

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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."