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

5 papers

NM_006218.4

p.E474A

c.1421A>C

Surrounding Variants

1 paper

NM_006218.4

p.E474D

c.1422G>C

1 paper

NM_006218.4

p.E474*

c.1420G>T

1 paper

NM_006218.4

p.E474D

c.1422G>T

2 papers

NM_006218.4

p.L475F

c.1425G>C

2 papers

NM_006218.4

p.L475F

c.1425G>T

3 papers

NM_006218.4

p.E476K

c.1426G>A

4 papers

NM_006218.4

p.C472Y

c.1415G>A

1 paper

NM_006218.4

p.F477delFs

c.1429delT

1 paper

NM_006218.4

p.C472insFs

c.1414dupT

1 paper

NM_006218.4

p.L473ins2

c.1418_1419ins6

1 paper

NM_006218.4

p.P471P

c.1413A>T

1 paper

NM_006218.4

p.P471Q

c.1412C>A