Varaico: Literature-Extracted Genetic Variants

Gene:DERL1
Variant:p.G180V
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DERL1

NM_024295.6:p.G180V

Associated Papers

Signal peptide peptidase functions in ERAD to cleave the unfolded protein response regulator XBP1u.

Chen CY et al.

The Embo Journal, 2014

Derlin-1 is a rhomboid pseudoprotease required for the dislocation of mutant α-1 antitrypsin from the endoplasmic reticulum.

Greenblatt EJ et al.

Nature Structural & Molecular Biology, 2011

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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."