Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.C318F
Back to variants list

ATP2A2

NM_170665.4:p.C318F

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

Leong IUS et al.

Plos One, 2017

Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.

Takeichi T et al.

Acta Dermato-venereologica, 2016

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

Green EK et al.

The Journal of Dermatology, 2013

Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.

Song J et al.

Archives of Dermatological Research, 2010

Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China.

Ren YQ et al.

Archives of Dermatological Research, 2006

Genetic heterogeneity in acrokeratosis verruciformis of Hopf.

Wang PG et al.

Clinical and Experimental Dermatology, 2006

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."