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

489 papers

NM_006218.4

p.N345K

c.1035T>A

Surrounding Variants

480 papers

NM_006218.4

p.N345K

c.1035T>G

1 paper

NM_006218.4

p.V346_D350delFs

c.1036_1049del14

32 papers

NM_006218.4

p.N345T

c.1034A>C

18 papers

NM_006218.4

p.N345S

c.1034A>G

63 papers

NM_006218.4

p.N345I

c.1034A>T

1 paper

NM_006218.4

p.N345_R349del0

c.1035_1046del12

1 paper

NM_006218.4

p.V346I

c.1036G>A

1 paper

NM_006218.4

p.V346fs

c.1036_1037fs

1 paper

NM_006218.4

p.V346insFs

c.1037dupT

15 papers

NM_006218.4

p.N345H

c.1033A>C

12 papers

NM_006218.4

p.N345D

c.1033A>G

11 papers

NM_006218.4

p.N345Y

c.1033A>T