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

7 papers

NM_006218.4

p.I351I

c.1053T>A

Surrounding Variants

1 paper

NM_006218.4

p.I351_D352ins3

c.1053_1054ins9

4 papers

NM_006218.4

p.D352N

c.1054G>A

2 papers

NM_006218.4

p.D352H

c.1054G>C

1 paper

NM_006218.4

p.D352fs

c.1054_1055fs

2 papers

NM_006218.4

p.D352Y

c.1054G>T

2 papers

NM_006218.4

p.I351N

c.1052T>A

1 paper

NM_006218.4

p.I351T

c.1052T>C

52 papers

NM_006218.4

p.D350G

c.1049A>G

1 paper

NM_006218.4

p.K353M

c.1058A>T

52 papers

NM_006218.4

p.D350N

c.1048G>A

7 papers

NM_006218.4

p.D350H

c.1048G>C

1 paper

NM_006218.4

p.D350Y

c.1048G>T