AKAP9

A-kinase anchoring protein 9

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. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

Known Variants2,442 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4727266	7:91,570,129	C/T	—	benign
rs1364090477	7:91,570,184	G/T	—	benign
rs886062463	7:91,570,203	C/A	—	uncertain significance
rs764753013	7:91,570,254	G/A	—	uncertain significance
rs1192035812	7:91,570,285	G/A	—	benign
rs4727267	7:91,570,290	G/C	—	likely benign
rs542223871	7:91,570,294	G/A	—	uncertain significance
rs886062464	7:91,570,307	C/T	—	uncertain significance
rs886062465	7:91,570,309	C/T	—	uncertain significance
rs1042546117	7:91,570,419	G/A	—	likely benign
rs1422124687	7:91,570,422	C/T	—	likely benign
rs777495665	7:91,570,423	G/C	—	likely benign
rs2484477604	7:91,570,428	G/T	—	uncertain significance
rs2484477626	7:91,570,430	G/A	—	uncertain significance
rs183942717	7:91,570,433	A/C	—	uncertain significance
rs1394849857	7:91,570,437	G/A	—	likely benign
rs756863406	7:91,570,438	A/C	—	uncertain significance
rs778519429	7:91,570,441	C/T	—	likely benign
rs2130422781	7:91,570,442	T/C	—	uncertain significance
rs2484477749	7:91,570,443	G/T	—	likely benign
rs2130422799	7:91,570,445	A/G	—	uncertain significance
rs1431417772	7:91,570,447	G/A	—	uncertain significance
rs1554367029	7:91,570,449	C/T	—	likely benign
rs868109719	7:91,570,450	G/A	—	uncertain significance
rs1376652098	7:91,570,452	C/T	—	likely benign
rs138107415	7:91,570,454	A/C	—	conflicting classifications of pathogenicity
rs747409915	7:91,570,457	C/T	—	uncertain significance
rs377559019	7:91,570,466	G/A	—	uncertain significance
rs1217103896	7:91,570,471	C/T	—	likely benign
rs1206811077	7:91,570,472	C/T	—	likely benign
rs894809506	7:91,570,475	A/T	—	likely benign
rs200332898	7:91,570,481	C/T	—	likely benign
rs7797369	7:91,570,615	C/A	—	benign
rs10259526	7:91,576,824	G/C	—	—
rs11772585	7:91,581,503	C/T	intron variant	—
rs2188155	7:91,599,825	A/G	—	benign
rs10264979	7:91,603,004	G/A	—	benign
rs749383289	7:91,603,022	T/C	—	uncertain significance
rs770850802	7:91,603,030	C/A	—	likely benign
rs1060503553	7:91,603,037	C/T	—	uncertain significance
rs760483571	7:91,603,038	G/A	—	uncertain significance
rs974543308	7:91,603,043	A/G	—	uncertain significance
rs1795351636	7:91,603,048	A/G	—	likely benign
rs730880042	7:91,603,049	G/A	—	uncertain significance
rs2484598434	7:91,603,053	A/C	—	uncertain significance
rs1030567089	7:91,603,054	G/A	—	likely benign
rs142401936	7:91,603,056	C/G	—	uncertain significance
rs145936668	7:91,603,057	G/A	—	likely benign
rs2484598470	7:91,603,058	G/A	—	uncertain significance
rs757953782	7:91,603,069	T/G	—	uncertain significance
rs752156538	7:91,603,085	A/G	—	uncertain significance
rs755408339	7:91,603,095	G/A	—	conflicting classifications of pathogenicity
rs781602762	7:91,603,101	C/T	—	likely benign
rs186969744	7:91,603,102	G/A	—	likely benign
rs2484598663	7:91,603,104	C/T	—	uncertain significance
rs1795356848	7:91,603,110	G/A	—	uncertain significance
rs2484598729	7:91,603,113	A/G	—	uncertain significance
rs35669569	7:91,603,115	C/T	—	likely benign
rs1447616097	7:91,603,117	T/C	—	likely benign
rs2484598767	7:91,603,119	A/G	—	uncertain significance
rs749473172	7:91,603,122	T/A	—	uncertain significance
rs142125596	7:91,603,134	A/G	—	conflicting classifications of pathogenicity
rs747011533	7:91,603,142	A/G	—	uncertain significance
rs768477512	7:91,603,148	G/A	—	uncertain significance
rs368162150	7:91,603,153	A/G	—	likely benign
rs1423223603	7:91,603,155	C/T	—	uncertain significance
rs769670110	7:91,603,159	G/A	—	likely benign
rs1433559893	7:91,603,161	G/A	—	uncertain significance
rs2484598947	7:91,603,169	A/G	—	uncertain significance
rs773017487	7:91,603,174	C/T	—	likely benign
rs765951390	7:91,603,185	C/A	—	uncertain significance
rs61757668	7:91,603,187	C/G	—	uncertain significance
rs1795366129	7:91,603,191	G/C	—	uncertain significance
rs887210886	7:91,603,193	G/T	—	uncertain significance
rs2484599060	7:91,603,195	A/G	—	likely benign
rs2484599089	7:91,603,201	A/G	—	likely benign
rs1795366964	7:91,603,204	T/A	—	likely benign
rs2130563280	7:91,603,207	G/T	—	likely benign
rs768026366	7:91,603,211	C/T	—	conflicting classifications of pathogenicity
rs2484599149	7:91,603,221	C/G	—	uncertain significance
rs768859701	7:91,603,233	C/G	—	uncertain significance
rs150736347	7:91,603,237	A/G	—	likely benign
rs1554389115	7:91,603,240	T/G	—	uncertain significance
rs1795371147	7:91,603,244	G/A	—	uncertain significance
rs571281120	7:91,603,257	G/T	—	uncertain significance
rs2484599325	7:91,603,260	A/G	—	uncertain significance
rs2130563549	7:91,603,262	G/A	—	uncertain significance
rs34953651	7:91,603,264	G/T	—	likely benign
rs786205712	7:91,603,265	C/G	—	conflicting classifications of pathogenicity
rs2484599409	7:91,603,268	G/A	—	uncertain significance
rs1326456726	7:91,603,292	C/T	—	likely benign
rs115407770	7:91,603,345	T/G	—	likely benign
rs1238314038	7:91,609,598	T/G	—	conflicting classifications of pathogenicity
rs2484622586	7:91,609,599	T/C	—	uncertain significance
rs2484622631	7:91,609,610	G/A	—	uncertain significance
rs2484622657	7:91,609,619	C/T	—	uncertain significance
rs2484622663	7:91,609,621	A/G	—	uncertain significance
rs1384886142	7:91,609,635	C/T	—	likely benign
rs1191923442	7:91,609,639	A/G	—	uncertain significance
rs7808587	7:91,620,096	G/A	intron variant	—

Showing 100 of 2,442 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.