Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1E
Variant:p.V703G
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CACNA1E

NM_001205293.3:p.V703G

Associated Papers

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Royer-Bertrand B et al.

Molecular Autism, 2021

Double mutant cycle analysis identified a critical leucine residue in the IIS4S5 linker for the activation of the Ca(V)2.3 calcium channel.

Wall-Lacelle S et al.

The Journal of Biological Chemistry, 2011

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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."