Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.G562R
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DSG1

NM_001942.4:p.G562R

Associated Papers

The transmembrane domain of the desmosomal cadherin desmoglein-1 governs lipid raft association to promote desmosome adhesive strength.

Zimmer SE et al.

Molecular Biology of the Cell, 2024

39504468 (PubMed )
Supplement: reviewer_reportE24-05-0200.pdf

Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.

Zimmer SE et al.

The Journal of Investigative Dermatology, 2022

Messages from Mutant Desmosomes.

Magin TM et al.

The Journal of Investigative Dermatology, 2022

The desmosome is a mesoscale lipid raft-like membrane domain.

Lewis JD et al.

Molecular Biology of the Cell, 2019

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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."