Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.K514R
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ATP2A2

NM_170665.4:p.K514R

Associated Papers

Identification and Characterization of p300-Mediated Lysine Residues in Cardiac SERCA2a.

Gorski PA et al.

International Journal of Molecular Sciences, 2023

Novel mutations in Darier disease and association to self-reported disease severity.

Leong IUS et al.

Plos One, 2017

Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described.

Shi BJ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.

Song J et al.

Archives of Dermatological Research, 2010

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease.

Yang S et al.

Archives of Dermatological Research, 2004

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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."