Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.V4854A
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RYR2

NM_001035.3:p.V4854A

Associated Papers

Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.

Xu L et al.

The Journal of Biological Chemistry, 2008

The predicted TM10 transmembrane sequence of the cardiac Ca2+ release channel (ryanodine receptor) is crucial for channel activation and gating.

Wang R et al.

The Journal of Biological Chemistry, 2004

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."