rs2515565362

This variant is located in the SYT5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SYT5

Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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