Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.T316delFs
Back to variants list

ATP2A2

NM_170665.4:p.T316delFs

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

40565511 (PubMed )
Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1

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

Guo X et al.

Genes & Genomics, 2025

Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.

Gordon-Smith K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

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

Green EK et al.

The Journal of Dermatology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."