Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.C318R
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ATP2A1

NM_004320.6:p.C318R

Associated Papers

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability.

Onozuka T et al.

The British Journal of Dermatology, 2004

Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses.

Dode L 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

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A et al.

Human Molecular Genetics, 1999

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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."