Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.M686Splc
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ATP2C1

NM_001378687.1:p.M686Splc

Associated Papers

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

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

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.

Hu Z et al.

Nature Genetics, 2000

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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."