rs564097986

This variant is located in the CAMK2B gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About CAMK2B

The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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