Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.G4864A
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RYR2

NM_001035.3:p.G4864A

Associated Papers

Channel Gating Dependence on Pore Lining Helix Glycine Residues in Skeletal Muscle Ryanodine Receptor.

Mei Y et al.

The Journal of Biological Chemistry, 2015

Investigations of the contribution of a putative glycine hinge to ryanodine receptor channel gating.

Euden J et al.

The Journal of Biological Chemistry, 2013

Structural and functional conservation of key domains in InsP3 and ryanodine receptors.

Seo MD et al.

Nature, 2012

22286060 (PubMed )
Supplement: NIHMS40158-supplement-1.pdf

Molecular characterization of the inositol 1,4,5-trisphosphate receptor pore-forming segment.

Schug ZT et al.

The Journal of Biological Chemistry, 2008

The role of the S4-S5 linker and C-terminal tail in inositol 1,4,5-trisphosphate receptor function.

Schug ZT et al.

The Journal of Biological Chemistry, 2006

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."