rs370054146
This variant is located in the KANK2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all KANK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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