CCDC88A

coiled-coil and HOOK domain protein 88A

Summary

This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants872 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2589113	2:55,516,323	T/C	—	—
rs200026991	2:55,518,851	G/A	—	uncertain significance
rs1417483550	2:55,518,853	G/A	—	likely benign
rs200404307	2:55,518,858	G/C	—	uncertain significance
rs1191463423	2:55,518,862	C/T	—	likely benign
rs1679470238	2:55,518,874	G/A	—	likely benign
rs375482415	2:55,518,880	T/A	—	likely benign
rs762237924	2:55,518,881	G/A	—	uncertain significance
rs2104536712	2:55,518,882	A/C	—	uncertain significance
rs2289168	2:55,518,903	T/C	—	benign
rs369578677	2:55,522,723	T/C	—	likely benign
rs1311467898	2:55,522,724	G/A	—	likely benign
rs760761141	2:55,522,734	A/G	—	uncertain significance
rs766387202	2:55,522,750	T/C	—	conflicting classifications of pathogenicity
rs2104549426	2:55,522,785	T/A	—	likely benign
rs367582957	2:55,522,787	T/C	—	conflicting classifications of pathogenicity
rs2529529528	2:55,522,790	G/T	—	uncertain significance
rs183431317	2:55,522,798	C/T	—	uncertain significance
rs751610996	2:55,522,800	G/A	—	likely benign
rs1679949384	2:55,522,807	G/T	—	uncertain significance
rs1295178031	2:55,522,815	A/G	—	likely benign
rs1298906061	2:55,522,823	T/C	—	uncertain significance
rs1254593710	2:55,522,825	C/T	—	uncertain significance
rs1196823521	2:55,522,827	T/C	—	likely benign
rs756430923	2:55,522,828	G/A	—	uncertain significance
rs778440423	2:55,522,834	C/T	—	uncertain significance
rs747889242	2:55,522,836	T/C	—	likely benign
rs1243958590	2:55,522,845	T/C	—	likely benign
rs749349350	2:55,522,847	C/T	—	uncertain significance
rs771013322	2:55,522,848	G/A	—	likely benign
rs2104549626	2:55,522,850	C/A	—	uncertain significance
rs2529529855	2:55,522,852	G/A	—	uncertain significance
rs138449414	2:55,522,862	C/T	—	uncertain significance
rs112577002	2:55,522,863	G/A	—	likely benign
rs759265232	2:55,522,867	C/G	—	uncertain significance
rs1391845821	2:55,522,869	T/G	—	likely benign
rs1464093756	2:55,522,873	C/T	—	uncertain significance
rs765138609	2:55,522,874	G/A	—	uncertain significance
rs775144967	2:55,522,886	C/T	—	uncertain significance
rs763205333	2:55,522,887	A/G	—	likely benign
rs764282431	2:55,522,889	A/G	—	uncertain significance
rs569160245	2:55,522,891	G/A	—	uncertain significance
rs767911397	2:55,522,913	G/C	—	uncertain significance
rs1486407894	2:55,522,929	T/C	—	likely benign
rs1188719613	2:55,522,943	T/C	—	uncertain significance
rs1679962650	2:55,522,944	T/G	—	uncertain significance
rs1423684112	2:55,522,948	C/A	—	uncertain significance
rs1048745757	2:55,522,957	C/G	—	uncertain significance
rs749584258	2:55,522,960	G/A	—	uncertain significance
rs1004634315	2:55,522,963	G/A	—	uncertain significance
rs114731908	2:55,522,964	T/C	—	benign
rs770508534	2:55,522,974	C/T	—	likely benign
rs368195213	2:55,522,975	G/A	—	uncertain significance
rs745884835	2:55,522,978	G/C	—	uncertain significance
rs769591926	2:55,522,981	C/T	—	uncertain significance
rs764333652	2:55,522,997	C/G	—	uncertain significance
rs149348311	2:55,523,008	C/T	—	uncertain significance
rs2529530883	2:55,523,020	C/T	—	uncertain significance
rs187224522	2:55,523,024	A/G	—	likely benign
rs376092784	2:55,523,034	C/T	—	likely benign
rs777583949	2:55,523,043	C/T	—	likely benign
rs751317578	2:55,523,044	C/T	—	uncertain significance
rs371735739	2:55,523,045	G/A	—	conflicting classifications of pathogenicity
rs780795405	2:55,523,052	A/G	—	likely benign
rs1225703949	2:55,523,053	T/C	—	uncertain significance
rs146278824	2:55,523,065	G/C	—	uncertain significance
rs1321501269	2:55,523,066	G/A	—	uncertain significance
rs779817808	2:55,523,074	C/A	—	uncertain significance
rs537426993	2:55,523,085	C/T	—	likely benign
rs774116559	2:55,523,087	T/C	—	uncertain significance
rs1679982368	2:55,523,097	A/G	—	likely benign
rs2529531485	2:55,523,102	T/C	—	uncertain significance
rs1679983062	2:55,523,105	C/G	—	uncertain significance
rs2104550277	2:55,523,107	G/A	—	uncertain significance
rs2104550287	2:55,523,110	T/A	—	uncertain significance
rs1178583021	2:55,523,114	C/G	—	uncertain significance
rs773388970	2:55,523,119	C/T	—	uncertain significance
rs760622549	2:55,523,123	A/G	—	likely benign
rs2104550349	2:55,523,131	G/T	—	uncertain significance
rs754328618	2:55,523,137	A/G	—	uncertain significance
rs144120500	2:55,523,143	A/G	—	uncertain significance
rs2104550381	2:55,523,144	A/C	—	uncertain significance
rs1381719295	2:55,523,163	T/C	—	likely benign
rs756983841	2:55,523,172	C/T	—	likely benign
rs749982942	2:55,523,177	G/C	—	uncertain significance
rs2529532014	2:55,523,183	A/C	—	uncertain significance
rs2104550436	2:55,523,187	C/T	—	likely benign
rs1679990924	2:55,523,192	T/G	—	uncertain significance
rs778716133	2:55,523,203	A/C	—	likely benign
rs921665604	2:55,523,212	A/T	—	likely benign
rs753310141	2:55,523,378	C/G	—	likely benign
rs1242623400	2:55,523,385	A/C	—	likely benign
rs1476374142	2:55,523,395	T/C	—	uncertain significance
rs140794014	2:55,523,399	C/T	—	conflicting classifications of pathogenicity
rs1273432992	2:55,523,400	T/C	—	likely benign
rs148827895	2:55,523,403	G/A	—	likely benign
rs778068988	2:55,523,420	C/T	—	uncertain significance
rs771250130	2:55,523,436	T/C	—	likely benign
rs2104551314	2:55,523,445	A/G	—	likely benign
rs2529535170	2:55,523,450	C/T	—	uncertain significance

Showing 100 of 872 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.