PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Summary

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

Known Variants1,053 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs576007456	3:178,865,976	G/A	—	—
rs553084547	3:178,866,242	C/T	—	—
rs149946088	3:178,866,330	C/T	—	likely benign
rs2699887	3:178,866,408	C/G	—	—
rs869312615	3:178,866,587	G/A	—	likely benign
rs74539762	3:178,871,998	C/T	intron variant	—
rs7621329	3:178,874,874	C/T	intron variant	—
rs4855094	3:178,877,977	G/A	intron variant	—
rs7651265	3:178,893,029	A/G	intron variant	—
rs6443624	3:178,897,674	C/G	—	—
rs7646409	3:178,900,193	T/C	regulatory region variant	—
rs9866361	3:178,907,849	G/C	—	—
rs870995	3:178,913,006	C/A	regulatory region variant	—
rs73882964	3:178,916,335	G/T	—	benign
rs869312617	3:178,916,400	A/T	—	likely benign
rs116535529	3:178,916,504	C/G	—	likely benign
rs11709323	3:178,916,519	T/C	—	likely benign
rs1724332515	3:178,916,614	A/G	—	uncertain significance
rs2108384932	3:178,916,615	T/C	—	uncertain significance
rs1576931853	3:178,916,617	C/T	—	uncertain significance
rs2473886032	3:178,916,619	T/G	—	likely benign
rs749956691	3:178,916,624	G/C	—	uncertain significance
rs2108384979	3:178,916,628	A/G	—	likely benign
rs2108385006	3:178,916,634	A/C	—	likely benign
rs2108385050	3:178,916,642	T/C	—	uncertain significance
rs758862912	3:178,916,643	G/A	—	likely benign
rs2108385090	3:178,916,650	A/G	—	uncertain significance
rs1576931874	3:178,916,653	C/T	—	uncertain significance
rs766833890	3:178,916,655	C/G	—	uncertain significance
rs2108385120	3:178,916,657	T/G	—	uncertain significance
rs751930632	3:178,916,658	G/C	—	uncertain significance
rs2473886290	3:178,916,664	C/A	—	likely benign
rs1178810605	3:178,916,665	C/T	—	uncertain significance
rs547238917	3:178,916,667	A/C	—	likely benign
rs2108385185	3:178,916,673	C/A	—	likely benign
rs781473521	3:178,916,674	C/A	—	uncertain significance
rs1260882271	3:178,916,676	A/G	—	likely benign
rs1051398	3:178,916,679	A/G	—	likely benign
rs2473886420	3:178,916,682	A/C	—	uncertain significance
rs2108385260	3:178,916,691	A/G	—	likely benign
rs1724334562	3:178,916,694	A/G	—	likely benign
rs2473886507	3:178,916,697	T/C	—	likely benign
rs1724335079	3:178,916,704	A/C	—	uncertain significance
rs2108385317	3:178,916,706	A/G	—	uncertain significance
rs1724335252	3:178,916,709	G/C	—	likely benign
rs2108385343	3:178,916,711	C/T	—	uncertain significance
rs2108385350	3:178,916,712	T/C	—	likely benign
rs2108385365	3:178,916,716	G/C	—	uncertain significance
rs1175550125	3:178,916,718	A/G	—	likely benign
rs749415085	3:178,916,725	C/T	missense variant	uncertain significance
rs772110575	3:178,916,726	G/A	missense variant	pathogenic
rs1724336051	3:178,916,736	A/C	—	likely benign
rs1724336467	3:178,916,747	T/C	—	uncertain significance
rs1724336565	3:178,916,752	C/T	—	uncertain significance
rs190372148	3:178,916,753	A/G	—	conflicting classifications of pathogenicity
rs768265254	3:178,916,754	T/G	—	uncertain significance
rs1207754023	3:178,916,760	A/G	—	likely benign
rs1064797300	3:178,916,761	T/C	—	uncertain significance
rs1724337761	3:178,916,765	A/G	—	uncertain significance
rs1553820355	3:178,916,767	G/C	—	uncertain significance
rs2473887018	3:178,916,775	A/G	—	likely benign
rs200868796	3:178,916,781	C/T	—	likely benign
rs202038584	3:178,916,784	C/G	—	likely benign
rs2108385691	3:178,916,787	C/T	—	likely benign
rs1266632047	3:178,916,788	C/T	—	uncertain significance
rs1480626654	3:178,916,789	A/C	—	uncertain significance
rs71310379	3:178,916,791	C/A	—	conflicting classifications of pathogenicity
rs2108385714	3:178,916,792	A/C	—	uncertain significance
rs2473887128	3:178,916,793	A/G	—	likely benign
rs2108385717	3:178,916,794	C/A	—	uncertain significance
rs2473887154	3:178,916,796	T/A	—	likely benign
rs2108385735	3:178,916,799	T/C	—	likely benign
rs772678298	3:178,916,802	A/C	—	uncertain significance
rs1724339117	3:178,916,808	A/T	—	uncertain significance
rs752074639	3:178,916,811	T/C	—	likely benign
rs2108385802	3:178,916,814	T/G	—	likely benign
rs760094170	3:178,916,823	C/T	—	likely benign
rs201269904	3:178,916,824	G/A	—	conflicting classifications of pathogenicity
rs879254355	3:178,916,826	A/G	—	likely benign
rs1560137176	3:178,916,827	A/G	—	uncertain significance
rs2108385861	3:178,916,835	T/C	—	likely benign
rs202176973	3:178,916,838	A/G	—	likely benign
rs1360446174	3:178,916,841	A/G	—	likely benign
rs1724340433	3:178,916,847	A/G	—	likely benign
rs1057519929	3:178,916,854	G/A	missense variant	pathogenic
rs1560137208	3:178,916,861	T/C	—	pathogenic
rs1060503814	3:178,916,865	T/C	—	likely benign
rs2473887565	3:178,916,871	A/G	—	likely benign
rs1324551833	3:178,916,874	A/G	—	likely benign
rs121913287	3:178,916,876	G/A	missense variant	pathogenic
rs200374754	3:178,916,877	A/T	—	likely benign
rs372013414	3:178,916,880	T/G	—	likely benign
rs2108386041	3:178,916,881	T/C	—	uncertain significance
rs1724341846	3:178,916,884	G/A	—	pathogenic
rs778184105	3:178,916,886	C/T	—	likely benign
rs1724342021	3:178,916,887	C/A	—	uncertain significance
rs1724342112	3:178,916,890	C/T	—	pathogenic
rs1064793663	3:178,916,891	G/C	missense variant	pathogenic
rs2108386099	3:178,916,892	G/A	—	likely benign
rs2108386139	3:178,916,900	A/G	—	uncertain significance

Showing 100 of 1,053 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.