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

1 paper

NM_006218.4

p.P397L

c.1190C>T

Surrounding Variants

2 papers

NM_006218.4

p.P397S

c.1189C>T

4 papers

NM_006218.4

p.P397_R398insFs

c.1191_1192insG

1 paper

NM_006218.4

p.R398S

c.1192C>A

4 papers

NM_006218.4

p.R398C

c.1192C>T

9 papers

NM_006218.4

p.R398H

c.1193G>A

4 papers

NM_006218.4

p.R398L

c.1193G>T

1 paper

NM_006218.4

p.L396I

c.1186C>A

2 papers

NM_006218.4

p.L396F

c.1186C>T

1 paper

NM_006218.4

p.A399_R401del3

c.1195_1202del9

2 papers

NM_006218.4

p.A399T

c.1195G>A

1 paper

NM_006218.4

p.D395A

c.1184A>C

1 paper

NM_006218.4

p.D395G

c.1184A>G