Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.S65T
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PRKN

NM_004562.3:p.S65T

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Prefoldin Promotes Proteasomal Degradation of Cytosolic Proteins with Missense Mutations by Maintaining Substrate Solubility.

Comyn SA et al.

Plos Genetics, 2016

27448207 (PubMed )
Supplement: pgen.1006184.s005.xlsx › Plasmids

Parkin-catalyzed ubiquitin-ester transfer is triggered by PINK1-dependent phosphorylation.

Iguchi M et al.

The Journal of Biological Chemistry, 2013

Alternative oxidase rescues mitochondria-mediated dopaminergic cell loss in Drosophila.

Humphrey DM et al.

Human Molecular Genetics, 2012

Isoform-specific regulation of a steroid hormone nuclear receptor by an E3 ubiquitin ligase in Drosophila melanogaster.

Gradilla AC et al.

Genetics, 2011

Legionella eukaryotic-like type IV substrates interfere with organelle trafficking.

de Felipe KS et al.

Plos Pathogens, 2008

Arabidopsis DDB1-CUL4 ASSOCIATED FACTOR1 forms a nuclear E3 ubiquitin ligase with DDB1 and CUL4 that is involved in multiple plant developmental processes.

Zhang Y et al.

The Plant Cell, 2008

Genetic interactions of the E3 ubiquitin ligase component FbxA with cyclic AMP metabolism and a histidine kinase signaling pathway during Dictyostelium discoideum development.

Tekinay T et al.

Eukaryotic Cell, 2003

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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."