Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.E917*
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ATP2A2

NM_170665.4:p.E917*

Associated Papers

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation.

Shintani H et al.

Experimental Dermatology, 2025

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.

Green EK et al.

The Journal of Dermatology, 2013

Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes.

Wang Y et al.

Journal of Cell Science, 2011

Multiple effects of SERCA2b mutations associated with Darier's disease.

Ahn W et al.

The Journal of Biological Chemistry, 2003

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

Ringpfeil F et al.

Experimental Dermatology, 2001

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

Jacobsen NJ 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."