present in Gene: ATP2A2
present in Chromosome: 12
Position on Chromosome: 110342430
Alleles of this Variant: A/G
rs121912732 in
ATP2A2 gene and
Keratosis Follicularis
PMID 10441324 1999 ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
PMID 10080178 1999 Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
PMID 19995371 2010 Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
PMID 10441323 1999 Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
PMID 28035777 2017 Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
PMID 10441325 1999 ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.