Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D337A
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SQSTM1

NM_003900.5:p.D337A

Associated Papers

SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells.

Nozaki M et al.

Eneurologicalsci, 2021

Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD.

Goode A et al.

Autophagy, 2016

Structural basis for sorting mechanism of p62 in selective autophagy.

Ichimura Y et al.

The Journal of Biological Chemistry, 2008

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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."