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

Selected Variant

11 papers

NM_006218.4

p.A289V

c.866C>T

Surrounding Variants

3 papers

NM_006218.4

p.A289D

c.866C>A

1 paper

NM_006218.4

p.A289delFs

c.867delT

7 papers

NM_006218.4

p.A289T

c.865G>A

1 paper

NM_006218.4

p.K290delFs

c.868delA

1 paper

NM_006218.4

p.K290E

c.868A>G

2 papers

NM_006218.4

p.K290R

c.869A>G

1 paper

NM_006218.4

p.K290I

c.869A>T

1 paper

NM_006218.4

p.K290_Y294delFs

c.870_880del11

1 paper

NM_006218.4

p.M288T

c.863T>C

1 paper

NM_006218.4

p.M288delFs

c.864delG

3 papers

NM_006218.4

p.E291K

c.871G>A

1 paper

NM_006218.4

p.E291Q

c.871G>C