Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.T510A
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ALS2

NM_020919.4:p.T510A

Associated Papers

The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2.

Shimakura K et al.

Biochemical and Biophysical Research Communications, 2021

Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Sato K et al.

The Journal of Biological Chemistry, 2018

Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation.

Otomo A et al.

Febs Letters, 2011

ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth.

Tudor EL 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."