Varaico: Literature-Extracted Genetic Variants

PIK3CA

10,890 papers

RefSeq 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 phosphor...

Pfam Domains

PI3K_p85Baa 32–107UCSCPI3-kinase family, p85-binding domain

PI3K_rbdaa 173–292UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 350–485UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 519–704UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 796–1015UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

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

HGNC Alias Symbol

PI3K

Papers

RefSeq ID

Protein change

DNA change

1–12 of 4027 variants

3540 papers

NM_006218.4

p.H1047R

c.3140A>G

3336 papers

NM_006218.4

p.E545K

c.1633G>A

2541 papers

NM_006218.4

p.E542K

c.1624G>A

1126 papers

NM_006218.4

p.H1047L

c.3140A>T

587 papers

NM_006218.4

p.C420R

c.1258T>C

550 papers

NM_006218.4

p.Q546K

c.1636C>A

506 papers

NM_006218.4

p.E545A

c.1634A>C

500 papers

NM_006218.4

p.R88Q

c.263G>A

489 papers

NM_006218.4

p.N345K

c.1035T>A

480 papers

NM_006218.4

p.N345K

c.1035T>G

435 papers

NM_006218.4

p.E545G

c.1634A>G

407 papers

NM_006218.4

p.M1043I

c.3129G>T