Varaico: Literature-Extracted Genetic Variants

Gene:PEX5
Variant:p.C11S
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PEX5

NM_001351132.2:p.C11S

Associated Papers

Cysteine ubiquitination of PTS1 receptor Pex5p regulates Pex5p recycling.

Okumoto K et al.

Traffic (copenhagen, Denmark), 2011

Versatile TPR domains accommodate different modes of target protein recognition and function.

Allan RK et al.

Cell Stress & Chaperones, 2011

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS et al.

Human Mutation, 2009

Functional characterization of two missense mutations in Pex5p - C11S and N526K.

Carvalho AF et al.

Biochimica Et Biophysica Acta, 2007

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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."