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.N714Y

c.2140A>T

Surrounding Variants

1 paper

NM_006218.4

p.N714fs

c.2140_2141fs

1 paper

NM_006218.4

p.N714insFs

c.2141dupA

1 paper

NM_006218.4

p.I713T

c.2138T>C

1 paper

NM_006218.4

p.I713L

c.2137A>C

1 paper

NM_006218.4

p.I713_N714delFs

c.2138_2142del5

2 papers

NM_006218.4

p.L712P

c.2135T>C

1 paper

NM_006218.4

p.L712I

c.2134C>A

2 papers

NM_006218.4

p.L712F

c.2134C>T

1 paper

NM_006218.4

p.T716I

c.2147C>T

4 papers

NM_006218.4

p.K711N

c.2133G>C

4 papers

NM_006218.4

p.K711N

c.2133G>T

1 paper

NM_006218.4

p.K711T

c.2132A>C