rs201527993

This variant is located in the KCNIP1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About KCNIP1

This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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