rs201230061

This variant is located in the MPDZ gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Inborn genetic diseases

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About MPDZ

The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

View all MPDZ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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