rs2494043456

This variant is located in the PPFIBP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PPFIBP2

This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

View all PPFIBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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