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

1 paper

NM_006218.4

p.K720fs

c.2158_2159fs

Surrounding Variants

1 paper

NM_006218.4

p.K720Q

c.2158A>C

1 paper

NM_006218.4

p.K720E

c.2158A>G

1 paper

NM_006218.4

p.K720I

c.2159A>T

1 paper

NM_006218.4

p.K720delFs

c.2160delA

1 paper

NM_006218.4

p.K720K

c.2160A>G

1 paper

NM_006218.4

p.L719P

c.2156T>C

1 paper

NM_006218.4

p.L719insFs

c.2156_2157insA

1 paper

NM_006218.4

p.L719I

c.2155C>A

6 papers

NM_006218.4

p.L719V

c.2155C>G

1 paper

NM_006218.4

p.L719F

c.2155C>T

1 paper

NM_006218.4

p.E722del1

c.2164_2165delGAG

1 paper

NM_006218.4

p.Q721R

c.2162A>G