rs1539809

This variant is located in the EPB41L3 gene.

About EPB41L3

Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to axon. Located in several cellular components, including cell-cell junction; ciliary basal body; and cytosol. Implicated in esophagus squamous cell carcinoma. Biomarker of meningioma. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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