Varaico: Literature-Extracted Genetic Variants

Gene:PXDNL
Variant:p.L103L
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PXDNL

NM_144651.5:p.L103L

Associated Papers

Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.

Muncanovic D et al.

Scientific Reports, 2019

Packing interactions between transmembrane helices alter ion selectivity of the yeast Golgi Ca2+/Mn2+-ATPase PMR1.

Mandal D et al.

The Journal of Biological Chemistry, 2003

Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).

Fairclough RJ et al.

The Journal of Biological Chemistry, 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."