rs149663018
This variant is located in the AHNAK gene.
▶ClinVar annotation
About AHNAK
The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
View all AHNAK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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