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

2 papers

NM_006218.4

p.A333S

c.997G>T

Surrounding Variants

2 papers

NM_006218.4

p.A333_R335del3

c.997_1004del9

2 papers

NM_006218.4

p.S332N

c.995G>A

1 paper

NM_006218.4

p.S332I

c.995G>T

1 paper

NM_006218.4

p.S332G

c.994A>G

1 paper

NM_006218.4

p.N331K

c.993T>A

1 paper

NM_006218.4

p.L334H

c.1001T>A

1 paper

NM_006218.4

p.S332_L334del3

c.994_1001del9

1 paper

NM_006218.4

p.S332_Y343del12

c.994_1028del36

1 paper

NM_006218.4

p.R335Fs

c.1003delinsGAFs

2 papers

NM_006218.4

p.L334L

c.1002C>T

1 paper

NM_006218.4

p.R335fs

c.1003_1004fs

4 papers

NM_006218.4

p.R335G

c.1003A>G