Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.I312T
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ATP2C1

NM_001378687.1:p.I312T

Associated Papers

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.

Xu K et al.

Medical Science Monitor Basic Research, 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

Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease.

Xing XS et al.

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

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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."