Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.A745D
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ATP2A2

NM_170665.4:p.A745D

Associated Papers

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

Leong IUS et al.

Plos One, 2017

The Cardiomyocyte RNA-Binding Proteome: Links to Intermediary Metabolism and Heart Disease.

Liao Y et al.

Cell Reports, 2016

27452465 (PubMed )
Supplement: mmc7.pdf

Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.

Miyauchi Y et al.

The Journal of Biological Chemistry, 2006

Mutations in ATP2A2 in patients with Darier's disease.

Ikeda S et al.

The Journal of Investigative Dermatology, 2003

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Ringpfeil F et al.

Experimental Dermatology, 2001

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A et al.

Human Molecular Genetics, 1999

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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."