Varaico: Literature-Extracted Genetic Variants

Gene:VPS29
Variant:p.I91S
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VPS29

NM_016226.5:p.I91S

Associated Papers

VARP is recruited on to endosomes by direct interaction with retromer, where together they function in export to the cell surface.

Hesketh GG et al.

Developmental Cell, 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

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics.

Harbour ME et al.

Journal of Cell Science, 2010

Vps29 has a phosphoesterase fold that acts as a protein interaction scaffold for retromer assembly.

Collins BM et al.

Nature Structural & Molecular Biology, 2005

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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."