rs2146202594

This variant is located in the STXBP2 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Familial hemophagocytic lymphohistiocytosis 5

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About STXBP2

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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