rs606231303

This is a variant in the KANK2 gene that changes a alanine to an valine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Wooly hair-palmoplantar keratoderma syndrome

About KANK2

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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