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.R309_S312del4

c.925_935del12

Surrounding Variants

1 paper

NM_006218.4

p.Y307*

c.921T>A

1 paper

NM_006218.4

p.Y307*

c.921T>G

1 paper

NM_006218.4

p.Y307fs

c.919_920fs

1 paper

NM_006218.4

p.S308_T313del6

c.922_938del18

1 paper

NM_006218.4

p.S308A

c.922T>G

1 paper

NM_006218.4

p.S306_Y307insFs

c.918_919insG

1 paper

NM_006218.4

p.Y307_S312del6

c.919_935del18

2 papers

NM_006218.4

p.Y307_T315del9

c.919_944del27

1 paper

NM_006218.4

p.S306C

c.917C>G

1 paper

NM_006218.4

p.S308S

c.924C>A

2 papers

NM_006218.4

p.S306P

c.916T>C

2 papers

NM_006218.4

p.S306A

c.916T>G