Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.P307H
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ATP2C1

NM_001378687.1:p.P307H

Associated Papers

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

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

Mutation-dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey-Hailey disease.

Matsuda M et al.

Experimental Dermatology, 2014

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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."