Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.V49G
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PLN

NM_002667.5:p.V49G

Associated Papers

A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia.

Liu GS et al.

Cardiovascular Research, 2015

The role of SERCA2a/PLN complex, Ca(2+) homeostasis, and anti-apoptotic proteins in determining cell fate.

Vafiadaki E et al.

Pflugers Archiv : European Journal of Physiology, 2009

Cross-linking of C-terminal residues of phospholamban to the Ca2+ pump of cardiac sarcoplasmic reticulum to probe spatial and functional interactions within the transmembrane domain.

Chen Z et al.

The Journal of Biological Chemistry, 2006

The presence of Lys27 instead of Asn27 in human phospholamban promotes sarcoplasmic reticulum Ca2+-ATPase superinhibition and cardiac remodeling.

Zhao W et al.

Circulation, 2006

Phospholamban: a crucial regulator of cardiac contractility.

MacLennan DH et al.

Nature Reviews. Molecular Cell Biology, 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."