rs760514773

This variant is located in the TPD52L1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TPD52L1

This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]

View all TPD52L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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