AKAP13
A-kinase anchoring protein 13
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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
Known Variants234 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7177469 | 15:85,924,827 | A/G | — | — |
| rs545858325 | 15:85,963,472 | T/C | — | — |
| rs78098881 | 15:85,964,821 | C/G | — | — |
| rs12917296 | 15:85,979,905 | C/T | — | — |
| rs4843059 | 15:85,997,490 | A/G | intron variant | — |
| rs62022112 | 15:86,009,608 | T/G | intron variant | — |
| rs6497187 | 15:86,011,350 | A/G | intron variant | — |
| rs4551990 | 15:86,015,287 | A/C | intron variant | — |
| rs35558728 | 15:86,024,111 | T/C | intron variant | — |
| rs35570291 | 15:86,026,974 | A/G | intron variant | — |
| rs1289947220 | 15:86,064,695 | G/C | — | uncertain significance |
| rs770686231 | 15:86,064,749 | C/T | — | uncertain significance |
| rs6496044 | 15:86,067,306 | G/A | intron variant | — |
| rs7170251 | 15:86,074,380 | C/T | regulatory region variant | — |
| rs377643462 | 15:86,076,851 | G/A | — | uncertain significance |
| rs371046040 | 15:86,076,854 | C/G | — | uncertain significance |
| rs2544358577 | 15:86,077,091 | G/A | — | uncertain significance |
| rs2544358592 | 15:86,077,101 | G/C | — | uncertain significance |
| rs767757712 | 15:86,087,015 | G/A | — | uncertain significance |
| rs753993449 | 15:86,087,039 | T/C | — | uncertain significance |
| rs775361535 | 15:86,087,076 | G/T | — | uncertain significance |
| rs2077647059 | 15:86,087,084 | C/A | — | uncertain significance |
| rs200112313 | 15:86,087,112 | C/G | — | uncertain significance |
| rs146115074 | 15:86,087,167 | C/G | — | uncertain significance |
| rs6496086 | 15:86,090,203 | G/A | intron variant | — |
| rs62023891 | 15:86,097,216 | G/C | — | — |
| rs749820665 | 15:86,118,403 | A/G | — | uncertain significance |
| rs114219897 | 15:86,118,415 | A/C | — | uncertain significance |
| rs939363727 | 15:86,118,450 | G/A | — | uncertain significance |
| rs779516831 | 15:86,118,457 | A/C | — | uncertain significance |
| rs2078965785 | 15:86,118,469 | C/G | — | uncertain significance |
| rs2544617312 | 15:86,118,514 | G/A | — | uncertain significance |
| rs139228938 | 15:86,118,517 | C/G | — | uncertain significance |
| rs1464433663 | 15:86,118,550 | A/C | — | uncertain significance |
| rs1026723 | 15:86,119,326 | C/T | downstream gene variant | — |
| rs1026721 | 15:86,119,420 | T/A | — | — |
| rs1002903243 | 15:86,122,213 | A/G | — | uncertain significance |
| rs73452430 | 15:86,122,299 | G/A | — | benign |
| rs752179320 | 15:86,122,312 | G/C | — | uncertain significance |
| rs1177860871 | 15:86,122,432 | G/A | — | uncertain significance |
| rs1402404524 | 15:86,122,447 | T/C | — | likely benign |
| rs1164968314 | 15:86,122,471 | C/G | — | uncertain significance |
| rs201499474 | 15:86,122,473 | G/C | — | uncertain significance |
| rs377036692 | 15:86,122,494 | A/G | — | uncertain significance |
| rs1233849948 | 15:86,122,517 | T/A | — | uncertain significance |
| rs139682746 | 15:86,122,529 | G/A | — | benign |
| rs370964831 | 15:86,122,557 | A/G | — | uncertain significance |
| rs2079113681 | 15:86,122,681 | C/T | — | uncertain significance |
| rs759185126 | 15:86,122,785 | A/T | — | uncertain significance |
| rs35930051 | 15:86,122,790 | G/A | — | benign |
| rs370099086 | 15:86,122,807 | G/A | — | uncertain significance |
| rs759395748 | 15:86,122,866 | G/A | — | uncertain significance |
| rs756684469 | 15:86,122,887 | A/G | — | uncertain significance |
| rs115385197 | 15:86,122,909 | C/T | — | likely benign |
| rs1165482873 | 15:86,122,939 | A/C | — | uncertain significance |
| rs995036838 | 15:86,122,971 | G/A | — | uncertain significance |
| rs142726559 | 15:86,122,978 | C/T | — | uncertain significance |
| rs2544639928 | 15:86,122,983 | A/C | — | uncertain significance |
| rs2544639989 | 15:86,123,010 | T/C | — | uncertain significance |
| rs777709932 | 15:86,123,020 | G/T | — | uncertain significance |
| rs761656247 | 15:86,123,050 | A/G | — | uncertain significance |
| rs56156165 | 15:86,123,085 | A/G | — | benign |
| rs761987312 | 15:86,123,103 | G/A | — | uncertain significance |
| rs1268821210 | 15:86,123,115 | C/A | — | uncertain significance |
| rs747919838 | 15:86,123,124 | G/T | — | uncertain significance |
| rs2544640333 | 15:86,123,140 | C/T | — | uncertain significance |
| rs61731842 | 15:86,123,142 | A/G | — | likely benign |
| rs2544640386 | 15:86,123,160 | G/A | — | likely benign |
| rs112396662 | 15:86,123,216 | A/G | — | benign |
| rs113595243 | 15:86,123,231 | C/T | — | likely benign |
| rs1339727265 | 15:86,123,355 | A/C | — | uncertain significance |
| rs2079122846 | 15:86,123,362 | G/A | — | uncertain significance |
| rs146531116 | 15:86,123,489 | T/A | — | uncertain significance |
| rs775639445 | 15:86,123,496 | C/A | — | uncertain significance |
| rs2079126171 | 15:86,123,634 | G/A | — | uncertain significance |
| rs114705815 | 15:86,123,770 | A/T | — | likely benign |
| rs114703106 | 15:86,123,809 | T/C | — | likely benign |
| rs4075256 | 15:86,123,833 | T/G | — | likely benign |
| rs201309736 | 15:86,123,874 | G/A | — | uncertain significance |
| rs758805052 | 15:86,123,890 | G/A | — | uncertain significance |
| rs143505118 | 15:86,124,044 | G/C | — | benign |
| rs1433656381 | 15:86,124,085 | A/G | — | uncertain significance |
| rs961958256 | 15:86,124,086 | T/A | — | uncertain significance |
| rs141822123 | 15:86,124,250 | C/T | — | likely benign |
| rs976008231 | 15:86,124,330 | G/C | — | uncertain significance |
| rs138265569 | 15:86,124,339 | G/T | — | uncertain significance |
| rs2079136191 | 15:86,124,347 | C/A | — | uncertain significance |
| rs779436198 | 15:86,124,352 | T/A | — | uncertain significance |
| rs748397693 | 15:86,124,355 | C/T | — | uncertain significance |
| rs866802171 | 15:86,124,453 | G/T | — | uncertain significance |
| rs116622424 | 15:86,124,461 | C/T | — | likely benign |
| rs4843074 | 15:86,124,483 | C/G | missense variant | — |
| rs61742515 | 15:86,124,515 | T/C | — | benign |
| rs563937314 | 15:86,124,563 | G/A | — | likely benign |
| rs757764236 | 15:86,124,574 | C/T | — | uncertain significance |
| rs779803596 | 15:86,124,758 | A/G | — | uncertain significance |
| rs1267896396 | 15:86,124,765 | G/A | — | uncertain significance |
| rs1216840381 | 15:86,124,804 | T/C | — | uncertain significance |
| rs115468498 | 15:86,124,824 | G/A | — | likely benign |
| rs888949901 | 15:86,124,832 | A/G | — | uncertain significance |
Showing 100 of 234 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.