AKT3

AKT serine/threonine kinase 3

Summary

The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants172 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12093576	1:243,655,897	C/G	—	—
rs10927029	1:243,662,773	C/T	—	benign
rs142572046	1:243,662,892	A/G	—	likely benign
rs574680728	1:243,663,098	A/C	—	likely benign
rs14403	1:243,663,893	C/T	downstream gene variant	—
rs67027895	1:243,667,216	C/G	—	—
rs543291675	1:243,668,544	A/G	—	likely benign
rs148332912	1:243,668,575	G/C	—	likely benign
rs150573714	1:243,668,593	C/T	—	benign
rs1669592664	1:243,668,594	G/A	—	conflicting classifications of pathogenicity
rs587776935	1:243,668,598	G/A	missense variant	pathogenic
rs778193336	1:243,668,605	A/G	—	likely benign
rs142844303	1:243,668,632	A/G	—	likely benign
rs3006936	1:243,674,772	A/G	intron variant	—
rs2529190719	1:243,675,636	T/G	—	likely benign
rs2148363374	1:243,675,638	G/T	—	likely benign
rs1574509510	1:243,675,650	T/C	—	conflicting classifications of pathogenicity
rs868556430	1:243,675,704	C/G	—	uncertain significance
rs143949494	1:243,675,705	T/C	—	likely benign
rs1290444154	1:243,675,709	G/A	—	uncertain significance
rs762883936	1:243,675,722	G/A	—	uncertain significance
rs2148363624	1:243,675,738	G/C	—	likely benign
rs759098115	1:243,675,748	G/C	—	likely benign
rs180881224	1:243,675,848	C/T	—	likely benign
rs10927031	1:243,685,760	G/C	intron variant	—
rs138339432	1:243,687,913	T/G	—	likely benign
rs139146421	1:243,690,221	A/C	intron variant	—
rs115947874	1:243,708,763	T/C	—	likely benign
rs371365459	1:243,708,797	A/G	—	benign
rs780490457	1:243,708,807	C/A	—	uncertain significance
rs1048970120	1:243,708,822	T/C	—	uncertain significance
rs1672606867	1:243,708,848	G/A	—	likely benign
rs771494754	1:243,708,861	C/T	—	conflicting classifications of pathogenicity
rs942187513	1:243,708,883	C/T	—	uncertain significance
rs187627364	1:243,708,906	G/A	—	likely benign
rs1473466	1:243,709,071	G/A	—	benign
rs367951410	1:243,716,014	C/T	—	likely benign
rs781443210	1:243,716,015	G/A	—	benign
rs774883413	1:243,716,090	T/C	—	likely benign
rs2148466016	1:243,716,093	T/G	—	likely benign
rs760280114	1:243,716,112	T/C	—	likely benign
rs1026697335	1:243,716,144	G/A	—	likely benign
rs199771220	1:243,716,150	G/A	—	benign
rs2529465552	1:243,716,196	C/T	—	uncertain significance
rs371532988	1:243,716,198	T/C	—	likely benign
rs1064795602	1:243,716,230	C/T	missense variant	pathogenic
rs1673171921	1:243,716,231	A/C	—	pathogenic
rs767721572	1:243,716,263	A/G	—	likely benign
rs115216696	1:243,726,917	T/C	—	likely benign
rs1057522977	1:243,727,008	G/C	—	likely benign
rs776361820	1:243,727,013	G/T	—	likely benign
rs2148488034	1:243,727,019	T/C	—	uncertain significance
rs1673961647	1:243,727,037	T/C	—	likely benign
rs770248544	1:243,727,064	G/A	—	likely benign
rs2148488208	1:243,727,083	C/T	—	uncertain significance
rs766767139	1:243,727,088	T/C	—	likely benign
rs201347487	1:243,727,130	G/A	—	likely benign
rs752876589	1:243,727,131	T/C	—	uncertain significance
rs370193515	1:243,727,160	A/C	—	conflicting classifications of pathogenicity
rs1558618010	1:243,727,162	G/C	—	likely benign
rs750153115	1:243,727,168	T/C	—	likely benign
rs189417920	1:243,727,616	C/G	—	likely benign
rs80149251	1:243,736,039	C/T	—	likely benign
rs1481058473	1:243,736,226	A/T	—	likely benign
rs150205993	1:243,736,240	G/A	—	likely benign
rs1674673024	1:243,736,244	A/G	—	conflicting classifications of pathogenicity
rs77764554	1:243,736,255	G/A	—	benign
rs766197531	1:243,736,295	T/C	—	uncertain significance
rs1340146435	1:243,736,318	G/A	—	likely benign
rs781331863	1:243,736,321	C/T	—	likely benign
rs1204640048	1:243,736,327	C/T	—	likely benign
rs1074657	1:243,746,634	T/A	—	—
rs35978510	1:243,776,117	T/A	—	—
rs6656446	1:243,776,764	G/A	—	likely benign
rs76718021	1:243,776,826	C/T	—	benign
rs752740384	1:243,776,976	G/A	—	likely benign
rs397514605	1:243,776,983	T/C	missense variant	pathogenic
rs530590989	1:243,776,984	T/G	—	conflicting classifications of pathogenicity
rs1678068695	1:243,776,987	C/T	—	uncertain significance
rs1678069744	1:243,777,011	G/A	—	uncertain significance
rs2168812	1:243,777,066	G/A	—	benign
rs58476990	1:243,777,268	T/C	—	likely benign
rs73122387	1:243,778,239	C/A	—	benign
rs147853297	1:243,778,275	C/T	—	likely benign
rs114952562	1:243,778,284	C/T	—	likely benign
rs2527998078	1:243,778,391	C/T	—	likely benign
rs775503811	1:243,778,461	A/G	—	likely benign
rs1277089927	1:243,778,469	A/G	—	likely benign
rs1678200685	1:243,778,480	G/A	—	likely benign
rs139620097	1:243,778,558	G/A	—	likely benign
rs12032481	1:243,788,009	A/C	coding sequence variant	—
rs750034703	1:243,800,922	A/G	—	likely benign
rs886041100	1:243,800,926	A/T	missense variant	pathogenic
rs2528154032	1:243,800,932	T/G	—	uncertain significance
rs80155418	1:243,800,934	C/T	—	likely benign
rs2147812145	1:243,800,936	T/C	—	pathogenic
rs2147812159	1:243,800,942	T/C	—	uncertain significance
rs2528154121	1:243,800,948	T/C	—	uncertain significance
rs766072665	1:243,800,952	A/G	—	likely benign
rs1187260557	1:243,800,954	A/G	—	uncertain significance

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.