rs970257200

This variant is located in the EPB41L2 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EPB41L2

Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in several cellular components, including cell cortex; cell junction; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all EPB41L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…