Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.V128M
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C2

NM_000063.6:p.V128M

Associated Papers

A quartet of leucine residues in the guanylate kinase domain of CaVβ determines the plasma membrane density of the CaV2.3 channel.

Shakeri B et al.

The Journal of Biological Chemistry, 2012

Ultrahigh and high resolution structures and mutational analysis of monomeric Streptococcus pyogenes SpeB reveal a functional role for the glycine-rich C-terminal loop.

González-Páez GE et al.

The Journal of Biological Chemistry, 2012

A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours.

Lazzereschi D et al.

Oncogene, 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."