Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1A
Variant:p.E197K
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PPP2R1A

NM_014225.6:p.E197K

Associated Papers

Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.

Ji W et al.

Clinical Genetics, 2024

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.

Oyama N et al.

Journal of Medical Genetics, 2023

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.

Verbinnen I et al.

Biochemical Society Transactions, 2021

A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.

Papke CM et al.

The Journal of Biological Chemistry, 0

33482199 (PubMed )
Supplement: mmc1.pdf
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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."