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.V409delFs

c.1227delT

Surrounding Variants

1 paper

NM_006218.4

p.V409I

c.1225G>A

1 paper

NM_006218.4

p.V409L

c.1225G>C

1 paper

NM_006218.4

p.V409F

c.1225G>T

2 papers

NM_006218.4

p.V409fs

c.1225_1226fs

2 papers

NM_006218.4

p.S408S

c.1224T>C

1 paper

NM_006218.4

p.V409_K410insFs

c.1227_1228dupTA

2 papers

NM_006218.4

p.S408F

c.1223C>T

1 paper

NM_006218.4

p.K410*

c.1228A>T

1 paper

NM_006218.4

p.C407*

c.1221C>A

5 papers

NM_006218.4

p.C407W

c.1221C>G

1 paper

NM_006218.4

p.C407Y

c.1220G>A

5 papers

NM_006218.4

p.C407F

c.1220G>T