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.C126S

c.376T>A

Surrounding Variants

1 paper

NM_006218.4

p.C126G

c.376T>G

1 paper

NM_006218.4

p.V125V

c.375G>A

1 paper

NM_006218.4

p.C126S

c.377G>C

2 papers

NM_006218.4

p.V125E

c.374T>A

1 paper

NM_006218.4

p.E127delFs

c.379delG

3 papers

NM_006218.4

p.E127K

c.379G>A

1 paper

NM_006218.4

p.V125M

c.373G>A

1 paper

NM_006218.4

p.V125_C126insATG

c.373_377ins9

1 paper

NM_006218.4

p.E127*

c.379G>T

1 paper

NM_006218.4

p.P124P

c.372A>G

1 paper

NM_006218.4

p.E127G

c.380A>G

1 paper

NM_006218.4

p.E127D

c.381A>T