Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.P680L
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ATP2A2

NM_170665.4:p.P680L

Associated Papers

A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

Guo X et al.

Genes & Genomics, 2025

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

Leong IUS et al.

Plos One, 2017

An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.

Li M et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2017

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

Mutation analysis of the ATP2A2 gene in Taiwanese patients with Darier's disease.

Chao SC et al.

The British Journal of Dermatology, 2002

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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."