Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.N39T
Back to variants list

ATP2A2

NM_170665.4:p.N39T

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

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

Green EK et al.

The Journal of Dermatology, 2013

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

Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.

Rácz E et al.

Experimental Dermatology, 2004

Mutations in ATP2A2 in patients with Darier's disease.

Ikeda S et al.

The Journal of Investigative Dermatology, 2003

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

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."