Varaico: Literature-Extracted Genetic Variants

Gene:CAMK2G
Variant:p.K43R
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CAMK2G

NM_001367534.1:p.K43R

Associated Papers

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.

Proietti Onori M et al.

Human Mutation, 2018

γCaMKII shuttles Ca²⁺/CaM to the nucleus to trigger CREB phosphorylation and gene expression.

Ma H et al.

Cell, 2014

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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."