rs762253349

This variant is located in the STX18 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About STX18

This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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