Varaico: Literature-Extracted Genetic Variants

Gene:PDCD6
Variant:p.E114A
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PDCD6

NM_013232.4:p.E114A

Associated Papers

In vitro reconstitution of calcium-dependent recruitment of the human ESCRT machinery in lysosomal membrane repair.

Shukla S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Alix is required for activity-dependent bulk endocytosis at brain synapses.

Laporte MH et al.

Plos Biology, 2022

Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2.

Takahashi T et al.

International Journal of Molecular Sciences, 2015

The penta-EF-hand protein ALG-2 interacts with a region containing PxY repeats in Alix/AIP1, which is required for the subcellular punctate distribution of the amino-terminal truncation form of Alix/AIP1.

Shibata H et al.

Journal of Biochemistry, 2004

Apoptosis-linked gene product ALG-2 is a new member of the calpain small subunit subfamily of Ca2+-binding proteins.

Lo KW et al.

Biochemistry, 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."