AKAP8
A-kinase anchoring protein 8
Summary
This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747113664 | 19:15,465,744 | G/A | — | likely benign |
| rs139907510 | 19:15,465,785 | C/T | — | likely benign |
| rs369631726 | 19:15,465,808 | C/T | — | uncertain significance |
| rs777457097 | 19:15,465,890 | C/T | — | uncertain significance |
| rs1160119484 | 19:15,465,899 | C/T | — | uncertain significance |
| rs148784064 | 19:15,465,907 | G/A | — | uncertain significance |
| rs116901926 | 19:15,465,960 | G/A | — | benign |
| rs144064099 | 19:15,465,976 | G/A | — | likely benign |
| rs2048269577 | 19:15,465,994 | G/T | — | uncertain significance |
| rs774075327 | 19:15,466,004 | C/T | — | uncertain significance |
| rs150076099 | 19:15,466,040 | C/T | — | uncertain significance |
| rs1278366290 | 19:15,466,054 | G/T | — | uncertain significance |
| rs755822440 | 19:15,466,100 | T/G | — | uncertain significance |
| rs184425456 | 19:15,468,021 | C/T | intron variant | — |
| rs1406016403 | 19:15,469,822 | A/C | — | uncertain significance |
| rs746067463 | 19:15,469,864 | C/G | — | uncertain significance |
| rs773404765 | 19:15,471,682 | C/T | — | uncertain significance |
| rs199943338 | 19:15,471,683 | G/A | — | likely benign |
| rs201828341 | 19:15,471,758 | G/T | — | likely benign |
| rs533062877 | 19:15,471,789 | C/T | — | uncertain significance |
| rs184278305 | 19:15,472,554 | G/A | — | uncertain significance |
| rs113475650 | 19:15,472,561 | G/T | — | conflicting classifications of pathogenicity |
| rs201453989 | 19:15,472,596 | C/T | — | uncertain significance |
| rs750125258 | 19:15,472,957 | G/C | — | uncertain significance |
| rs755547911 | 19:15,472,967 | C/T | — | uncertain significance |
| rs776784836 | 19:15,473,016 | C/T | — | uncertain significance |
| rs1302862019 | 19:15,473,045 | G/T | — | uncertain significance |
| rs201082730 | 19:15,479,038 | C/T | — | benign |
| rs199996613 | 19:15,479,039 | G/A | — | likely benign |
| rs751500989 | 19:15,479,072 | G/C | — | uncertain significance |
| rs368973978 | 19:15,479,094 | C/G | — | uncertain significance |
| rs71334765 | 19:15,479,102 | C/T | — | likely benign |
| rs78692373 | 19:15,479,728 | A/C | intron variant | — |
| rs144668817 | 19:15,480,950 | T/G | — | benign |
| rs932022124 | 19:15,480,965 | C/T | — | likely benign |
| rs749344859 | 19:15,480,972 | A/T | — | uncertain significance |
| rs142190306 | 19:15,480,979 | G/A | — | benign |
| rs34063092 | 19:15,480,981 | G/A | — | benign |
| rs547414180 | 19:15,481,347 | T/C | — | — |
| rs573893470 | 19:15,483,057 | A/T | — | benign |
| rs567716912 | 19:15,483,058 | A/G | — | likely benign |
| rs115439396 | 19:15,483,061 | C/T | — | likely benign |
| rs779664437 | 19:15,483,062 | G/A | — | uncertain significance |
| rs1299204029 | 19:15,483,072 | G/A | — | likely benign |
| rs752673284 | 19:15,483,106 | C/T | — | uncertain significance |
| rs146400287 | 19:15,483,126 | T/C | — | benign |
| rs199931184 | 19:15,483,127 | G/T | — | uncertain significance |
| rs45479794 | 19:15,483,137 | G/A | — | benign |
| rs146135700 | 19:15,483,663 | C/T | — | uncertain significance |
| rs201087231 | 19:15,483,675 | C/T | — | uncertain significance |
| rs868155981 | 19:15,483,686 | C/G | — | uncertain significance |
| rs776467913 | 19:15,483,693 | C/T | — | uncertain significance |
| rs775496511 | 19:15,483,703 | C/T | — | uncertain significance |
| rs766433853 | 19:15,483,732 | G/A | — | uncertain significance |
| rs754301101 | 19:15,483,736 | C/G | — | likely benign |
| rs144582281 | 19:15,483,751 | C/G | — | uncertain significance |
| rs1320118342 | 19:15,483,754 | C/T | — | likely benign |
| rs1477990727 | 19:15,483,783 | A/C | — | uncertain significance |
| rs538615949 | 19:15,483,799 | G/A | — | uncertain significance |
| rs374389542 | 19:15,483,804 | G/T | — | benign |
| rs1450013190 | 19:15,483,806 | G/T | — | likely benign |
| rs368979758 | 19:15,483,812 | C/T | — | benign |
| rs61750058 | 19:15,483,818 | C/G | — | benign |
| rs748148114 | 19:15,483,836 | G/A | — | likely benign |
| rs200383217 | 19:15,483,847 | C/T | — | likely benign |
| rs759524859 | 19:15,483,858 | G/C | — | uncertain significance |
| rs2145083497 | 19:15,483,870 | T/A | — | uncertain significance |
| rs111389458 | 19:15,483,906 | C/T | — | benign |
| rs1251624887 | 19:15,483,910 | T/C | — | uncertain significance |
| rs767992491 | 19:15,483,951 | C/T | — | uncertain significance |
| rs148406708 | 19:15,483,952 | C/G | — | uncertain significance |
| rs781056958 | 19:15,483,972 | T/A | — | uncertain significance |
| rs12983369 | 19:15,483,990 | C/T | — | uncertain significance |
| rs201218309 | 19:15,483,991 | G/A | — | uncertain significance |
| rs148526102 | 19:15,484,023 | T/C | — | benign |
| rs761375603 | 19:15,484,130 | G/C | — | uncertain significance |
| rs543998894 | 19:15,484,135 | G/C | — | uncertain significance |
| rs370984046 | 19:15,484,628 | C/T | — | likely benign |
| rs138778621 | 19:15,484,631 | C/T | — | likely benign |
| rs371717938 | 19:15,484,724 | G/A | — | uncertain significance |
| rs138205008 | 19:15,484,727 | C/T | — | uncertain significance |
| rs143110237 | 19:15,484,747 | G/A | — | uncertain significance |
| rs779421659 | 19:15,484,753 | G/T | — | uncertain significance |
| rs201040301 | 19:15,484,762 | G/C | — | uncertain significance |
| rs773531995 | 19:15,484,787 | C/T | — | likely benign |
| rs199886431 | 19:15,484,850 | C/T | — | uncertain significance |
| rs139511255 | 19:15,484,851 | G/A | — | benign |
| rs200427700 | 19:15,484,861 | T/C | — | uncertain significance |
| rs766031371 | 19:15,485,444 | C/T | — | likely benign |
| rs781152033 | 19:15,487,801 | G/A | — | uncertain significance |
| rs568660290 | 19:15,487,810 | C/T | — | uncertain significance |
| rs755984203 | 19:15,487,816 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.