rs556617318
This variant is located in the PXN gene.
▶ClinVar annotation
About PXN
This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
View all PXN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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