Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.L173insFs
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ATP2C1

NM_001378687.1:p.L173insFs

Associated Papers

Subcellular compartmentalization of STIM1 for the distinction of Darier disease from Hailey-Hailey disease.

Stanisz H et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2022

Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.

Miyazaki S et al.

The Journal of Dermatology, 2022

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.

Sawicka J et al.

Journal of Applied Genetics, 2020

The role of the ATP2C1 gene in Hailey-Hailey disease.

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.

Micaroni M et al.

Cell Death & Disease, 2016

27277681 (PubMed )
Supplement: cddis2016147x1.pdf

Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.

Ma YM et al.

Archives of Dermatological Research, 2008

[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].

Li XL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].

Zhang ZZ et al.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007

Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.

Ohtsuka T et al.

Dermatology (basel, Switzerland), 2006

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

Majore S et al.

The Journal of Investigative Dermatology, 2005

[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].

Li H et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2003

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.

Dobson-Stone C et al.

The Journal of Investigative Dermatology, 2002

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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."