Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.C383S
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SYNJ1

NM_203446.3:p.C383S

Associated Papers

Mini-review: Synaptojanin 1 and its implications in membrane trafficking.

Choudhry H et al.

Neuroscience Letters, 2021

The SAC1 phosphatase domain of synaptojanin-1 is activated by interacting with polyunsaturated fatty acid-containing phosphatidic acids.

Hoshino F et al.

Febs Letters, 2021

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE et al.

Human Mutation, 2013

The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.

Mani M et al.

Neuron, 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."