AKAP14
A-kinase anchoring protein 14
Summary
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146263846 | X:119,048,798 | C/T | — | uncertain significance |
| rs148090604 | X:119,048,804 | C/A | — | uncertain significance |
| rs186785902 | X:119,053,867 | T/G | — | benign |
| rs1337255269 | X:119,053,877 | G/A | — | uncertain significance |
| rs751405387 | X:119,054,484 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.