rs748982636

This variant is located in the PVR gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About PVR

The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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