Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.H185Q
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PTEN

NM_000314.8:p.H185Q

Associated Papers

Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation.

Catanese A et al.

Autophagy, 2019

The intrinsically disordered tails of PTEN and PTEN-L have distinct roles in regulating substrate specificity and membrane activity.

Masson GR et al.

The Biochemical Journal, 2016

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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."