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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs781774970	6:151,561,708	G/A	—	uncertain significance
rs898508650	6:151,561,741	C/G	—	uncertain significance
rs1255644306	6:151,561,782	G/A	—	uncertain significance
rs937163256	6:151,561,796	G/A	—	likely benign
rs1055577173	6:151,561,843	C/T	—	uncertain significance
rs9322309	6:151,577,183	G/A	intron variant	—
rs10434896	6:151,577,830	C/G	intron variant	—
rs7744492	6:151,581,446	C/T	intron variant	—
rs184179336	6:151,588,806	A/G	intron variant	—
rs551464346	6:151,626,945	C/T	—	uncertain significance
rs534033209	6:151,626,976	G/A	—	uncertain significance
rs145291472	6:151,626,987	G/C	—	uncertain significance
rs61755980	6:151,627,033	C/T	—	uncertain significance
rs112286726	6:151,657,972	T/C	regulatory region variant	—
rs755981370	6:151,669,854	A/G	—	uncertain significance
rs574433885	6:151,669,870	T/A	—	uncertain significance
rs1582899650	6:151,669,887	G/A	—	uncertain significance
rs1275973826	6:151,669,912	C/T	—	uncertain significance
rs138659689	6:151,669,965	G/A	—	uncertain significance
rs1032882144	6:151,670,020	C/A	—	uncertain significance
rs146265714	6:151,670,025	G/C	—	uncertain significance
rs62620007	6:151,670,035	T/C	—	conflicting classifications of pathogenicity
rs150800093	6:151,670,057	G/A	—	benign
rs78249780	6:151,670,117	G/A	—	benign
rs149211517	6:151,670,274	G/A	—	likely benign
rs1482313760	6:151,670,281	T/C	—	uncertain significance
rs73780648	6:151,670,287	C/T	—	benign
rs1401281476	6:151,670,325	G/A	—	uncertain significance
rs61757550	6:151,670,338	A/G	—	benign
rs141729078	6:151,670,449	G/A	—	uncertain significance
rs754707791	6:151,670,475	A/G	—	uncertain significance
rs369573088	6:151,670,493	G/A	—	uncertain significance
rs897651119	6:151,670,620	C/T	—	likely benign
rs777452665	6:151,670,631	C/T	—	uncertain significance
rs781279265	6:151,670,653	A/C	—	likely benign
rs142810400	6:151,670,656	T/C	—	benign
rs762093745	6:151,670,710	A/C	—	uncertain significance
rs756855877	6:151,670,748	A/G	—	likely benign
rs1409022738	6:151,670,749	T/C	—	uncertain significance
rs2485665790	6:151,670,754	G/C	—	uncertain significance
rs748474341	6:151,670,779	A/G	—	uncertain significance
rs781320285	6:151,670,811	G/A	—	uncertain significance
rs772323922	6:151,670,889	C/G	—	uncertain significance
rs771228267	6:151,670,901	C/T	—	uncertain significance
rs74394319	6:151,670,943	G/A	—	uncertain significance
rs202128437	6:151,670,970	C/G	—	uncertain significance
rs1280982935	6:151,671,024	G/T	—	uncertain significance
rs933155971	6:151,671,168	A/T	—	uncertain significance
rs148031768	6:151,671,213	G/A	—	uncertain significance
rs2485668882	6:151,671,234	C/G	—	uncertain significance
rs745575700	6:151,671,246	G/A	—	uncertain significance
rs199598118	6:151,671,249	G/A	—	uncertain significance
rs200508345	6:151,671,261	C/G	—	uncertain significance
rs1448204416	6:151,671,270	G/A	—	uncertain significance
rs147345804	6:151,671,365	C/A	—	conflicting classifications of pathogenicity
rs773207935	6:151,671,421	A/G	—	uncertain significance
rs1277238662	6:151,671,460	C/G	—	uncertain significance
rs1778249633	6:151,671,515	G/C	—	uncertain significance
rs771936289	6:151,671,537	C/T	—	uncertain significance
rs1778251462	6:151,671,558	T/C	—	uncertain significance
rs151321698	6:151,671,634	G/T	—	uncertain significance
rs201814292	6:151,671,694	C/T	—	uncertain significance
rs749579577	6:151,671,757	C/T	—	uncertain significance
rs2485672142	6:151,671,835	A/T	—	uncertain significance
rs145053659	6:151,671,871	A/C	—	uncertain significance
rs140093591	6:151,671,920	C/T	—	benign
rs376358304	6:151,671,922	G/A	—	uncertain significance
rs1778263624	6:151,671,949	A/G	—	uncertain significance
rs148253170	6:151,672,030	G/A	—	likely benign
rs758660746	6:151,672,062	G/A	—	uncertain significance
rs765782081	6:151,672,143	G/A	—	uncertain significance
rs143721071	6:151,672,216	C/T	—	likely benign
rs2485674253	6:151,672,218	G/A	—	uncertain significance
rs771644564	6:151,672,225	C/T	—	uncertain significance
rs769514807	6:151,672,341	A/G	—	uncertain significance
rs369546793	6:151,672,407	C/T	—	uncertain significance
rs772259468	6:151,672,431	G/A	—	uncertain significance
rs754285729	6:151,672,441	C/A	—	uncertain significance
rs1042069	6:151,672,485	G/A	—	uncertain significance
rs199808949	6:151,672,500	G/A	—	uncertain significance
rs1778285957	6:151,672,524	A/C	—	uncertain significance
rs200765443	6:151,672,537	C/T	—	uncertain significance
rs61757549	6:151,672,573	C/T	—	likely benign
rs770074260	6:151,672,696	C/G	—	uncertain significance
rs550861405	6:151,672,768	C/A	—	uncertain significance
rs148199351	6:151,672,772	A/G	—	benign
rs145796585	6:151,672,795	C/T	—	likely benign
rs1221187614	6:151,672,803	G/A	—	uncertain significance
rs200925112	6:151,672,914	A/G	—	likely benign
rs200662204	6:151,672,950	G/A	missense variant	—
rs995236575	6:151,673,002	C/T	—	uncertain significance
rs201554927	6:151,673,131	C/G	—	uncertain significance
rs1055660853	6:151,673,148	G/A	—	uncertain significance
rs142951494	6:151,673,179	A/T	—	benign
rs1424291865	6:151,673,185	G/A	—	uncertain significance
rs546987694	6:151,673,266	A/G	—	uncertain significance
rs776397833	6:151,673,274	G/A	—	uncertain significance
rs775466504	6:151,673,289	G/A	—	uncertain significance
rs768041434	6:151,673,344	A/C	—	uncertain significance
rs2485679817	6:151,673,391	G/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.