Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V4854A
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RYR1

NM_000540.3:p.V4854A

Associated Papers

Residue Gln4863 within a predicted transmembrane sequence of the Ca2+ release channel (ryanodine receptor) is critical for ryanodine interaction.

Wang R et al.

The Journal of Biological Chemistry, 2003

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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."