Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.L398V
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SQSTM1

NM_003900.5:p.L398V

Associated Papers

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.

Zádori D et al.

Frontiers in Neurology, 2020

Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.

Long J et al.

The Journal of Biological Chemistry, 2008

The p62 scaffold regulates nerve growth factor-induced NF-kappaB activation by influencing TRAF6 polyubiquitination.

Wooten MW et al.

The Journal of Biological Chemistry, 2005

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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."