AKAP12

A-kinase anchoring protein 12

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 expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants126 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7817749706:151,561,708G/A—uncertain significance
rs8985086506:151,561,741C/G—uncertain significance
rs12556443066:151,561,782G/A—uncertain significance
rs9371632566:151,561,796G/A—likely benign
rs10555771736:151,561,843C/T—uncertain significance
rs93223096:151,577,183G/Aintron variant—
rs104348966:151,577,830C/Gintron variant—
rs77444926:151,581,446C/Tintron variant—
rs1841793366:151,588,806A/Gintron variant—
rs5514643466:151,626,945C/T—uncertain significance
rs5340332096:151,626,976G/A—uncertain significance
rs1452914726:151,626,987G/C—uncertain significance
rs617559806:151,627,033C/T—uncertain significance
rs1122867266:151,657,972T/Cregulatory region variant—
rs7559813706:151,669,854A/G—uncertain significance
rs5744338856:151,669,870T/A—uncertain significance
rs15828996506:151,669,887G/A—uncertain significance
rs12759738266:151,669,912C/T—uncertain significance
rs1386596896:151,669,965G/A—uncertain significance
rs10328821446:151,670,020C/A—uncertain significance
rs1462657146:151,670,025G/C—uncertain significance
rs626200076:151,670,035T/C—conflicting classifications of pathogenicity
rs1508000936:151,670,057G/A—benign
rs782497806:151,670,117G/A—benign
rs1492115176:151,670,274G/A—likely benign
rs14823137606:151,670,281T/C—uncertain significance
rs737806486:151,670,287C/T—benign
rs14012814766:151,670,325G/A—uncertain significance
rs617575506:151,670,338A/G—benign
rs1417290786:151,670,449G/A—uncertain significance
rs7547077916:151,670,475A/G—uncertain significance
rs3695730886:151,670,493G/A—uncertain significance
rs8976511196:151,670,620C/T—likely benign
rs7774526656:151,670,631C/T—uncertain significance
rs7812792656:151,670,653A/C—likely benign
rs1428104006:151,670,656T/C—benign
rs7620937456:151,670,710A/C—uncertain significance
rs7568558776:151,670,748A/G—likely benign
rs14090227386:151,670,749T/C—uncertain significance
rs24856657906:151,670,754G/C—uncertain significance
rs7484743416:151,670,779A/G—uncertain significance
rs7813202856:151,670,811G/A—uncertain significance
rs7723239226:151,670,889C/G—uncertain significance
rs7712282676:151,670,901C/T—uncertain significance
rs743943196:151,670,943G/A—uncertain significance
rs2021284376:151,670,970C/G—uncertain significance
rs12809829356:151,671,024G/T—uncertain significance
rs9331559716:151,671,168A/T—uncertain significance
rs1480317686:151,671,213G/A—uncertain significance
rs24856688826:151,671,234C/G—uncertain significance
rs7455757006:151,671,246G/A—uncertain significance
rs1995981186:151,671,249G/A—uncertain significance
rs2005083456:151,671,261C/G—uncertain significance
rs14482044166:151,671,270G/A—uncertain significance
rs1473458046:151,671,365C/A—conflicting classifications of pathogenicity
rs7732079356:151,671,421A/G—uncertain significance
rs12772386626:151,671,460C/G—uncertain significance
rs17782496336:151,671,515G/C—uncertain significance
rs7719362896:151,671,537C/T—uncertain significance
rs17782514626:151,671,558T/C—uncertain significance
rs1513216986:151,671,634G/T—uncertain significance
rs2018142926:151,671,694C/T—uncertain significance
rs7495795776:151,671,757C/T—uncertain significance
rs24856721426:151,671,835A/T—uncertain significance
rs1450536596:151,671,871A/C—uncertain significance
rs1400935916:151,671,920C/T—benign
rs3763583046:151,671,922G/A—uncertain significance
rs17782636246:151,671,949A/G—uncertain significance
rs1482531706:151,672,030G/A—likely benign
rs7586607466:151,672,062G/A—uncertain significance
rs7657820816:151,672,143G/A—uncertain significance
rs1437210716:151,672,216C/T—likely benign
rs24856742536:151,672,218G/A—uncertain significance
rs7716445646:151,672,225C/T—uncertain significance
rs7695148076:151,672,341A/G—uncertain significance
rs3695467936:151,672,407C/T—uncertain significance
rs7722594686:151,672,431G/A—uncertain significance
rs7542857296:151,672,441C/A—uncertain significance
rs10420696:151,672,485G/A—uncertain significance
rs1998089496:151,672,500G/A—uncertain significance
rs17782859576:151,672,524A/C—uncertain significance
rs2007654436:151,672,537C/T—uncertain significance
rs617575496:151,672,573C/T—likely benign
rs7700742606:151,672,696C/G—uncertain significance
rs5508614056:151,672,768C/A—uncertain significance
rs1481993516:151,672,772A/G—benign
rs1457965856:151,672,795C/T—likely benign
rs12211876146:151,672,803G/A—uncertain significance
rs2009251126:151,672,914A/G—likely benign
rs2006622046:151,672,950G/Amissense variant—
rs9952365756:151,673,002C/T—uncertain significance
rs2015549276:151,673,131C/G—uncertain significance
rs10556608536:151,673,148G/A—uncertain significance
rs1429514946:151,673,179A/T—benign
rs14242918656:151,673,185G/A—uncertain significance
rs5469876946:151,673,266A/G—uncertain significance
rs7763978336:151,673,274G/A—uncertain significance
rs7754665046:151,673,289G/A—uncertain significance
rs7680414346:151,673,344A/C—uncertain significance
rs24856798176:151,673,391G/A—uncertain significance

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.