Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.R603I
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ATP2A2

NM_170665.4:p.R603I

Associated Papers

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

Guo X et al.

Genes & Genomics, 2025

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.

Ronan A et al.

American Journal of Medical Genetics. Part A, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene.

Zheng L et al.

Molecular Medicine Reports, 2015

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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."