PIK3C2A

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Summary

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]

Known Variants381 total

rsidPosition (GRCh37)AllelesClassClinVar
rs198769411:17,107,648G/T——
rs1083273311:17,111,272A/G—benign
rs14231656111:17,111,288C/T—likely benign
rs14613472611:17,111,300C/T—likely benign
rs20113331611:17,111,301G/A—uncertain significance
rs126504114111:17,111,313T/C—uncertain significance
rs20019644811:17,111,324C/T—likely benign
rs74700650711:17,111,325G/A—uncertain significance
rs13901223511:17,111,340T/C—likely benign
rs74757603611:17,111,349T/C—uncertain significance
rs249411256611:17,111,372C/T—likely benign
rs77135324411:17,111,389G/A—uncertain significance
rs142063713411:17,111,404T/C—uncertain significance
rs37616838711:17,111,471C/T—likely benign
rs37522621011:17,112,862A/T—benign
rs76551815411:17,112,896C/T—likely benign
rs75139658911:17,112,897G/A—uncertain significance
rs75919789811:17,112,905C/T—likely benign
rs184830715311:17,112,930C/G—uncertain significance
rs76043745811:17,112,942T/C—uncertain significance
rs19993517611:17,112,955G/C—uncertain significance
rs105457414311:17,112,973C/G—uncertain significance
rs6175135111:17,112,977T/C—likely benign
rs117695652911:17,112,988C/A—uncertain significance
rs249411886711:17,113,078C/A—likely benign
rs76397729211:17,113,099C/A—uncertain significance
rs77862899011:17,113,137C/T—uncertain significance
rs77006685811:17,113,175G/A—likely benign
rs249411949011:17,113,213C/A—likely benign
rs77107961811:17,113,534T/A—likely benign
rs124858294911:17,113,552T/C—uncertain significance
rs19973530511:17,113,555C/G—uncertain significance
rs101899287611:17,113,714C/T—uncertain significance
rs140337699011:17,113,715A/C—uncertain significance
rs14282051211:17,113,718C/T—likely benign
rs77644690311:17,113,721T/C—likely benign
rs184833044611:17,113,724A/G—likely benign
rs37107515111:17,113,732T/A—uncertain significance
rs144624621111:17,113,749C/T—uncertain significance
rs249394336811:17,115,794G/A—likely benign
rs249394337411:17,115,795G/A—likely benign
rs249394338111:17,115,798G/T—likely benign
rs156523512111:17,115,800A/C—likely benign
rs14082846311:17,115,817T/C—conflicting classifications of pathogenicity
rs128511950111:17,115,840G/A—likely benign
rs249394367711:17,115,847T/C—uncertain significance
rs37020164811:17,115,858C/T—likely benign
rs14439998511:17,115,874G/A—uncertain significance
rs249394383711:17,115,880A/G—uncertain significance
rs76457762511:17,115,908C/T—uncertain significance
rs249394398711:17,115,913A/C—uncertain significance
rs124800886311:17,115,947C/T—likely benign
rs74766976411:17,115,949C/A—likely benign
rs184847486511:17,118,586T/C—likely benign
rs77484887811:17,118,588T/C—likely benign
rs118300256111:17,118,598A/T—uncertain significance
rs76574103511:17,118,632T/C—uncertain significance
rs249395551511:17,118,651C/T—uncertain significance
rs6176308511:17,118,661T/A—benign
rs86766312811:17,118,663G/T—likely benign
rs144215591111:17,118,669C/G—uncertain significance
rs1160456111:17,118,687C/T—benign
rs117108722011:17,118,691A/C—likely benign
rs11366214211:17,118,730G/A—benign
rs128298234111:17,118,748A/G—likely benign
rs148759091711:17,118,750C/T—uncertain significance
rs37585366311:17,118,754G/A—likely benign
rs75638758311:17,118,780T/C—uncertain significance
rs19148872111:17,121,432C/T—uncertain significance
rs14902051711:17,121,433G/A—benign
rs77568571011:17,121,438T/C—uncertain significance
rs36952574211:17,121,466G/A—benign
rs14303117511:17,121,486T/C—uncertain significance
rs249396592311:17,121,490A/G—likely benign
rs249396613011:17,121,522G/A—likely benign
rs37421064511:17,122,809T/A—likely benign
rs104003993711:17,122,818T/C—likely benign
rs148830953011:17,122,850T/G—uncertain significance
rs74815584611:17,122,910C/T—uncertain significance
rs249397197911:17,122,912A/T—likely benign
rs249397218411:17,122,960C/A—likely benign
rs6176308011:17,123,269G/T——
rs184867606511:17,124,190A/G—likely benign
rs19016098911:17,124,195C/A—likely benign
rs76992586411:17,124,227A/T—uncertain significance
rs74947005311:17,124,236T/C—uncertain significance
rs14821728411:17,124,277C/T—benign
rs249398023111:17,124,286A/G—likely benign
rs37045527511:17,124,308C/T—uncertain significance
rs249398070211:17,124,366A/G—uncertain significance
rs3612045411:17,124,388C/A—benign
rs205218811:17,126,670C/T—benign
rs56268010611:17,126,697G/A—likely benign
rs89279721811:17,126,784A/G—uncertain significance
rs76249484811:17,126,787C/T—uncertain significance
rs75725930911:17,126,842C/A—uncertain significance
rs14357894711:17,127,117T/Cintron variant—
rs77718858711:17,131,960A/T—likely benign
rs20066863111:17,131,974C/T—uncertain significance
rs143524129811:17,131,981C/T—uncertain significance

Showing 100 of 381 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.