rs202055538

This variant is located in the AHNAK2 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters

not provided; not specified

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About AHNAK2

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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