AKAP6
A-kinase anchoring protein 6
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 encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
Known Variants143 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1951681 | 14:32,851,025 | G/A | intron variant | — |
| rs779781949 | 14:32,902,727 | C/T | — | uncertain significance |
| rs769818741 | 14:32,902,766 | G/A | — | uncertain significance |
| rs2550803967 | 14:32,902,767 | C/A | — | uncertain significance |
| rs200712514 | 14:32,902,937 | A/T | — | uncertain significance |
| rs2550804266 | 14:32,902,961 | A/G | — | uncertain significance |
| rs1957014 | 14:32,907,086 | G/A | upstream gene variant | — |
| rs3825751 | 14:32,923,677 | C/T | intron variant | — |
| rs11156751 | 14:32,990,437 | T/C | intron variant | — |
| rs774949614 | 14:33,004,871 | G/A | — | uncertain significance |
| rs201978712 | 14:33,004,949 | G/A | — | uncertain significance |
| rs778102324 | 14:33,004,971 | A/C | — | uncertain significance |
| rs1064797187 | 14:33,014,584 | A/G | — | uncertain significance |
| rs2550882338 | 14:33,014,700 | T/C | — | likely benign |
| rs150211003 | 14:33,014,787 | G/A | — | likely benign |
| rs902960153 | 14:33,014,815 | C/A | — | uncertain significance |
| rs766559163 | 14:33,014,848 | G/C | — | uncertain significance |
| rs2550882587 | 14:33,014,890 | T/C | — | uncertain significance |
| rs778586322 | 14:33,014,919 | C/G | — | uncertain significance |
| rs764886044 | 14:33,015,013 | C/T | — | uncertain significance |
| rs1883175754 | 14:33,015,083 | T/G | — | uncertain significance |
| rs551902426 | 14:33,015,094 | G/A | — | likely benign |
| rs2550882969 | 14:33,015,177 | G/A | — | uncertain significance |
| rs772168542 | 14:33,015,213 | G/A | — | uncertain significance |
| rs1594730258 | 14:33,015,232 | G/A | — | uncertain significance |
| rs773890811 | 14:33,015,265 | A/G | — | uncertain significance |
| rs773837438 | 14:33,015,351 | C/T | — | uncertain significance |
| rs759100876 | 14:33,015,373 | T/C | — | uncertain significance |
| rs775238509 | 14:33,015,385 | G/C | — | uncertain significance |
| rs147822200 | 14:33,015,447 | C/T | — | uncertain significance |
| rs1414367757 | 14:33,015,496 | C/T | — | uncertain significance |
| rs35210906 | 14:33,015,531 | G/A | — | benign |
| rs199856915 | 14:33,015,640 | C/T | — | uncertain significance |
| rs779374416 | 14:33,015,678 | C/A | — | uncertain significance |
| rs758998554 | 14:33,015,688 | C/A | — | uncertain significance |
| rs1470043668 | 14:33,015,944 | G/C | — | uncertain significance |
| rs377411035 | 14:33,015,971 | A/G | — | uncertain significance |
| rs547925072 | 14:33,016,017 | A/G | — | uncertain significance |
| rs370767767 | 14:33,016,044 | C/T | — | uncertain significance |
| rs1243698474 | 14:33,016,152 | A/G | — | uncertain significance |
| rs1216220062 | 14:33,016,159 | A/T | — | uncertain significance |
| rs1213602989 | 14:33,016,164 | C/T | — | uncertain significance |
| rs2550884018 | 14:33,016,186 | C/T | — | uncertain significance |
| rs2550884025 | 14:33,016,190 | A/G | — | uncertain significance |
| rs569600627 | 14:33,046,326 | G/T | — | uncertain significance |
| rs1267893116 | 14:33,046,399 | C/T | — | uncertain significance |
| rs371864764 | 14:33,046,413 | A/T | — | uncertain significance |
| rs144892695 | 14:33,068,660 | T/C | — | likely benign |
| rs113244262 | 14:33,069,852 | C/G | — | uncertain significance |
| rs761876269 | 14:33,069,853 | G/A | — | uncertain significance |
| rs1172690454 | 14:33,069,874 | A/T | — | uncertain significance |
| rs2550911216 | 14:33,069,915 | C/T | — | uncertain significance |
| rs34572259 | 14:33,069,942 | G/A | — | benign |
| rs368282282 | 14:33,069,966 | G/T | — | uncertain significance |
| rs150992068 | 14:33,069,977 | G/C | — | uncertain significance |
| rs1438748987 | 14:33,069,978 | G/C | — | uncertain significance |
| rs372455705 | 14:33,147,544 | G/A | — | uncertain significance |
| rs767239711 | 14:33,147,547 | C/G | — | uncertain significance |
| rs374840581 | 14:33,147,598 | A/G | — | uncertain significance |
| rs2550946540 | 14:33,147,635 | T/C | — | uncertain significance |
| rs374526507 | 14:33,201,724 | C/T | — | uncertain significance |
| rs1201153554 | 14:33,201,763 | T/G | — | uncertain significance |
| rs145850608 | 14:33,204,916 | G/A | — | uncertain significance |
| rs144326498 | 14:33,204,942 | A/G | — | uncertain significance |
| rs148363111 | 14:33,204,991 | G/T | — | uncertain significance |
| rs1465973108 | 14:33,205,015 | T/G | — | uncertain significance |
| rs2300835 | 14:33,207,522 | C/A | regulatory region variant | — |
| rs763427514 | 14:33,242,963 | G/A | — | uncertain significance |
| rs374551617 | 14:33,243,055 | G/A | — | uncertain significance |
| rs2383378 | 14:33,282,470 | C/G | — | — |
| rs113474930 | 14:33,290,621 | T/C | — | uncertain significance |
| rs780694878 | 14:33,290,783 | G/A | — | uncertain significance |
| rs2551058200 | 14:33,290,819 | A/G | — | uncertain significance |
| rs549615030 | 14:33,290,987 | G/A | — | uncertain significance |
| rs748121108 | 14:33,291,023 | C/A | — | uncertain significance |
| rs138871657 | 14:33,291,133 | A/G | — | uncertain significance |
| rs376462388 | 14:33,291,140 | C/T | — | uncertain significance |
| rs1331081834 | 14:33,291,176 | T/C | — | uncertain significance |
| rs2034536430 | 14:33,291,231 | T/A | — | uncertain significance |
| rs1039399181 | 14:33,291,244 | T/A | — | uncertain significance |
| rs139501222 | 14:33,291,311 | C/T | — | uncertain significance |
| rs2551059163 | 14:33,291,319 | G/A | — | uncertain significance |
| rs1244942389 | 14:33,291,337 | G/A | — | uncertain significance |
| rs111260630 | 14:33,291,463 | A/G | — | uncertain significance |
| rs139599366 | 14:33,291,508 | C/T | — | uncertain significance |
| rs898898915 | 14:33,291,515 | T/G | — | uncertain significance |
| rs146544391 | 14:33,291,530 | T/C | — | uncertain significance |
| rs773176230 | 14:33,291,533 | A/T | — | uncertain significance |
| rs17099587 | 14:33,291,565 | A/G | — | benign |
| rs369118703 | 14:33,291,631 | C/A | — | uncertain significance |
| rs765635610 | 14:33,291,663 | G/T | — | uncertain significance |
| rs374791919 | 14:33,291,667 | T/C | — | likely benign |
| rs754487631 | 14:33,291,678 | G/A | — | uncertain significance |
| rs201548317 | 14:33,291,772 | A/G | — | uncertain significance |
| rs2551059779 | 14:33,291,824 | C/A | — | uncertain significance |
| rs369137731 | 14:33,291,836 | A/G | — | uncertain significance |
| rs2034561380 | 14:33,291,895 | G/A | — | uncertain significance |
| rs772482363 | 14:33,292,035 | G/A | — | uncertain significance |
| rs556059201 | 14:33,292,121 | C/T | — | uncertain significance |
| rs946282224 | 14:33,292,143 | G/T | — | uncertain significance |
Showing 100 of 143 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.