Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.P602L
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ATP2A2

NM_170665.4:p.P602L

Associated Papers

Sporadic Case of Acrokeratosis Verruciformis of Hopf With Unusual Clinical Presentation: A Case Report and Review of the Literature.

Cabello-Hernández AI et al.

Cureus, 2025

A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

Guo X et al.

Genes & Genomics, 2025

An Atypical Case of Acrokeratosis Verruciformis of Hopf Responding to Combined Acitretin and Cryotherapy.

Goswami A et al.

Cureus, 2024

Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.

Pei J et al.

Clinical Epigenetics, 2021

33757590 (PubMed )
Supplement: 13148_2021_1043_MOESM14_ESM.xlsx › Supplementary_Table_6C

Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease.

Sun CW et al.

Dermatology Online Journal, 2020

Darier Disease - A Clinical Illustration of Its High Variable Expressivity.

Beiu C et al.

Cureus, 2019

Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.

Mäki-Marttunen T et al.

Translational Psychiatry, 2017

30446648 (PubMed )
Supplement: 41398_2017_7_MOESM1_ESM.pdf

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.

Ronan A et al.

American Journal of Medical Genetics. Part A, 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.

Nellen RG et al.

Human Mutation, 2017

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

Leong IUS et al.

Plos One, 2017

Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis.

Gupta A et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016

Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis.

Ueo D et al.

The Journal of Dermatology, 2013

Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene.

Hayashi R et al.

The Journal of Dermatology, 2013

Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.

Bergman R et al.

The American Journal of Dermatopathology, 2012

Non-familial Acrokeratosis Verruciformis of Hopf.

Bang CH et al.

Annals of Dermatology, 2011

A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation.

Berk DR et al.

The British Journal of Dermatology, 2010

Acrokeratosis verruciformis of hopf associated with dilated cardiomyopathy.

Kaliyadan F et al.

Indian Journal of Dermatology, 2009

Acitretin treatment in acrokeratosis verruciformis of Hopf.

Serarslan G et al.

The Journal of Dermatological Treatment, 2007

SERCA pumps and human diseases.

Hovnanian A

Sub-cellular Biochemistry, 2007

Genetic heterogeneity in acrokeratosis verruciformis of Hopf.

Wang PG et al.

Clinical and Experimental Dermatology, 2006

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

Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.

Dhitavat J et al.

The Journal of Investigative Dermatology, 2003

In this issue: genotype-phenotype correlations: lessons learned from 'milder' genodermatoses.

Paller AS

The Journal of Investigative Dermatology, 2003

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