Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.H675R
Back to variants list

VPS35

NM_018206.6:p.H675R

Associated Papers

Role of the Retromer Complex in Neurodegenerative Diseases.

Li C et al.

Frontiers in Aging Neuroscience, 2016

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Rovelet-Lecrux A et al.

Molecular Psychiatry, 2015

Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy.

Zavodszky E et al.

Nature Communications, 2014

Endosomal recruitment of the WASH complex: active sequences and mutations impairing interaction with the retromer.

Helfer E et al.

Biology of the Cell, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."