rs552809326

This variant is located in the ITSN2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ITSN2

This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]

View all ITSN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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