AKAP7
A-kinase anchoring protein 7
Summary
This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs602848 | 6:131,446,791 | C/G | regulatory region variant | — |
| rs2485101906 | 6:131,466,430 | A/G | — | uncertain significance |
| rs376688567 | 6:131,466,444 | G/C | — | uncertain significance |
| rs756678433 | 6:131,466,496 | A/G | — | uncertain significance |
| rs2485102637 | 6:131,466,512 | T/G | — | uncertain significance |
| rs6917207 | 6:131,470,236 | C/A | — | — |
| rs1802807748 | 6:131,481,209 | A/T | — | uncertain significance |
| rs1354066863 | 6:131,486,323 | G/A | — | uncertain significance |
| rs148672116 | 6:131,490,396 | C/T | — | uncertain significance |
| rs765285496 | 6:131,540,832 | A/C | — | uncertain significance |
| rs562183592 | 6:131,540,866 | A/G | — | likely benign |
| rs200644883 | 6:131,540,870 | T/A | — | uncertain significance |
| rs4629710 | 6:131,563,577 | G/A | intron variant | — |
| rs146095444 | 6:131,582,218 | C/T | intron variant | — |
| rs1338143294 | 6:131,602,714 | C/T | — | uncertain significance |
| rs145004128 | 6:131,602,798 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.