rs1840652995
This variant is located in the STXBP1 gene.
▶ClinVar annotation
About STXBP1
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
View all STXBP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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