Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.T8A
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PLN

NM_002667.5:p.T8A

Associated Papers

Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy.

Young HS et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2015

Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

Ceholski DK et al.

The Journal of Biological Chemistry, 2012

Phospholamban domain Ib mutations influence functional interactions with the Ca2+-ATPase isoform of cardiac sarcoplasmic reticulum.

Kimura Y et al.

The Journal of Biological Chemistry, 1998

Amino acids Glu2 to Ile18 in the cytoplasmic domain of phospholamban are essential for functional association with the Ca(2+)-ATPase of sarcoplasmic reticulum.

Toyofuku T et al.

The Journal of Biological Chemistry, 1994

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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."