Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.G4824A
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RYR2

NM_001035.3:p.G4824A

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

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

Three-dimensional reconstruction of the recombinant type 2 ryanodine receptor and localization of its divergent region 1.

Liu Z et al.

The Journal of Biological Chemistry, 2002

Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors).

Xiao B et al.

The Journal of Biological Chemistry, 2002

Role of the proposed pore-forming segment of the Ca2+ release channel (ryanodine receptor) in ryanodine interaction.

Chen SR et al.

Biophysical Journal, 2002

Functional characterization of mutants in the predicted pore region of the rabbit cardiac muscle Ca(2+) release channel (ryanodine receptor isoform 2).

Du GG et al.

The Journal of Biological Chemistry, 2001

Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance.

Gao L et al.

Biophysical Journal, 2000

Mutation of divergent region 1 alters caffeine and Ca(2+) sensitivity of the skeletal muscle Ca(2+) release channel (ryanodine receptor).

Du GG et al.

The Journal of Biological Chemistry, 2000

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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."