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

4 papers

NM_006218.4

p.L792F

c.2376A>T

Surrounding Variants

4 papers

NM_006218.4

p.L792F

c.2376A>C

1 paper

NM_006218.4

p.L793M

c.2377C>A

1 paper

NM_006218.4

p.L792V

c.2374T>G

1 paper

NM_006218.4

p.E791_L792insFs

c.2373_2374insG

1 paper

NM_006218.4

p.E791V

c.2372A>T

1 paper

NM_006218.4

p.E791K

c.2371G>A

1 paper

NM_006218.4

p.E791Q

c.2371G>C

1 paper

NM_006218.4

p.E791fs

c.2371_2372fs

1 paper

NM_006218.4

p.Q795K

c.2383C>A

1 paper

NM_006218.4

p.Q795E

c.2383C>G

10 papers

NM_006218.4

p.S790L

c.2369C>T

1 paper

NM_006218.4

p.Q795R

c.2384A>G