rs765012665

This variant is located in the BASP1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About BASP1

This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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