rs121912737
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
0.830
GeneticVariation
BEFREE
We report a family with AKV due to the p.(Pro602Leu) mutation and discuss implications for this recurrent mutation on knowl edge of ATP2A2 structure and function.
28498512
2017
rs121912737
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
0.830
GeneticVariation
BEFREE
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.
22814319
2012
rs121912737
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
0.830
GeneticVariation
BEFREE
In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2.
12542527
2003
rs121912737
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
0.830
GeneticVariation
UNIPROT
In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2.
12542527
2003
rs121912737
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
T
0.830
CausalMutation
CLINVAR
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
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.
28035777
2017
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
BEFREE
The only non-LGD mutation (p.C560R ) reported in patients with Darier's disease and BD caused decreased ATP2A2 protein expression.
27106560
2016
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
19995371
2010
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
10441324
1999
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
10441323
1999
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
10080178
1999
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.810
GeneticVariation
UNIPROT
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
10441325
1999
rs121912734
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
C
0.810
CausalMutation
CLINVAR
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
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.
28035777
2017
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.
19995371
2010
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
Spectrum of novel ATP2A2 mutations in patients with Darier's disease.
10441323
1999
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
10441324
1999
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
10441325
1999
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
10080178
1999
rs121912738
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
A
0.800
CausalMutation
CLINVAR
rs28929478
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
A
0.800
CausalMutation
CLINVAR
rs28929478
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Keratosis Follicularis
0.800
GeneticVariation
UNIPROT
rs387906594
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
0.710
GeneticVariation
BEFREE
This mutation and a heterozygous A698V were previously described in AKV .
22814319
2012
rs387906594
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Acrokeratosis Verruciformis of Hopf
T
0.710
CausalMutation
CLINVAR
rs3026433
×
Entrez Id:
488
Gene Symbol:
ATP2A2
ATP2A2
Depressed bipolar I disorder
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 30 loci associated with bipolar disorder.
31043756
2019