Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.C296S
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PEX19

NM_002857.4:p.C296S

Associated Papers

The peroxisome biogenesis factors posttranslationally target reticulon homology domain-containing proteins to the endoplasmic reticulum membrane.

Yamamoto Y et al.

Scientific Reports, 2018

Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.

Emmanouilidis L et al.

Nature Communications, 2017

Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.

Schrul B et al.

Nature Cell Biology, 2016

PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.

Sacksteder KA et al.

The Journal of Cell Biology, 2000

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.

Matsuzono Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."