AKAP1

A-kinase anchoring protein 1

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 binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

Known Variants68 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78161522817:55,182,853C/T—uncertain significance
rs75929477817:55,182,907C/A—uncertain significance
rs14777425717:55,182,923T/G—uncertain significance
rs93457197917:55,182,989A/G—uncertain significance
rs14696973717:55,183,002C/T—likely benign
rs223077017:55,183,003G/A—benign
rs250926160717:55,183,040C/G—uncertain significance
rs105513447117:55,183,045G/A—uncertain significance
rs14831214217:55,183,064A/G—uncertain significance
rs76660849817:55,183,094C/T—likely benign
rs96194622617:55,183,110G/T—uncertain significance
rs75502088417:55,183,133G/A—uncertain significance
rs20107223217:55,183,148C/T—uncertain significance
rs36961179617:55,183,169C/T—likely benign
rs37359174017:55,183,184G/A—likely benign
rs15016203217:55,183,196G/T—uncertain significance
rs75970088517:55,183,225G/T—uncertain significance
rs141132591317:55,183,232C/T—uncertain significance
rs76904631217:55,183,445A/G—uncertain significance
rs7399177017:55,183,477A/G—benign
rs11246966217:55,183,547G/C—conflicting classifications of pathogenicity
rs14511748717:55,183,561G/A—uncertain significance
rs144846941317:55,183,612G/T—uncertain significance
rs140367072417:55,183,615G/C—uncertain significance
rs19991718517:55,183,623G/C—uncertain significance
rs78120409117:55,183,635G/T—likely benign
rs191485690917:55,183,649C/A—uncertain significance
rs75468769817:55,183,673A/G—uncertain significance
rs78106299417:55,183,676C/T—uncertain significance
rs77268772017:55,183,684G/A—uncertain significance
rs3535999417:55,183,792G/A—benign
rs3453543317:55,183,813A/G—benign
rs77295815617:55,183,819G/T—uncertain significance
rs14959089317:55,183,885C/G—uncertain significance
rs77070249617:55,183,922C/T—uncertain significance
rs37603565417:55,183,945C/T—likely benign
rs7399177117:55,183,989C/T—benign
rs76306289217:55,184,042C/A—uncertain significance
rs191489850217:55,184,068C/T—likely benign
rs166726320217:55,184,084C/T—uncertain significance
rs20063055817:55,184,116C/T—uncertain significance
rs13943367617:55,184,130C/T—likely benign
rs123978930717:55,184,195A/G—uncertain significance
rs191491817017:55,184,249C/T—likely benign
rs7399177217:55,184,250G/A—benign
rs75605964017:55,184,255G/A—uncertain significance
rs117853747017:55,184,287G/A—uncertain significance
rs76087990117:55,184,304C/G—uncertain significance
rs76204046017:55,184,309G/T—uncertain significance
rs14035836417:55,184,387C/T—likely benign
rs75828572517:55,184,464G/C—uncertain significance
rs1165867617:55,184,469G/A—likely benign
rs14113046117:55,184,494G/T—uncertain significance
rs7641580217:55,187,420C/T—benign
rs74981942017:55,187,430C/T—uncertain significance
rs250928321517:55,189,231A/T—uncertain significance
rs989007417:55,189,846A/G—benign
rs75650421617:55,189,894A/G—uncertain significance
rs77326794017:55,189,932C/T—uncertain significance
rs6173197117:55,191,876C/T—benign
rs7331757417:55,191,921G/A—likely benign
rs77282317417:55,193,570G/A—uncertain significance
rs14330498817:55,193,629G/A—benign
rs18584355817:55,194,241C/T—uncertain significance
rs11633970117:55,194,242G/A—benign
rs250930772817:55,195,772C/G—uncertain significance
rs36839295417:55,195,790C/T—uncertain significance
rs223076917:55,195,791G/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.