Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.F1406C
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CACNA1B

NM_000718.4:p.F1406C

Associated Papers

Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels.

Fu SJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Groen JL et al.

Human Molecular Genetics, 2015

Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.

Jeng CJ et al.

American Journal of Physiology. Cell Physiology, 2006

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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."