Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.Q733R
Back to variants list

ATP2C1

NM_001378687.1:p.Q733R

Associated Papers

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Yang L et al.

Molecular Genetics & Genomic Medicine, 2021

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

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

Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.

Zhang HZ et al.

Clinical and Experimental Dermatology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."