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.D133E

c.399T>G

Surrounding Variants

1 paper

NM_006218.4

p.D133E

c.399T>A

1 paper

NM_006218.4

p.P134delFs

c.400delC

1 paper

NM_006218.4

p.P134_E135del2

c.400_404del6

1 paper

NM_006218.4

p.P134T

c.400C>A

1 paper

NM_006218.4

p.P134fs

c.400_401fs

1 paper

NM_006218.4

p.P134_E135insF

c.400_404ins3

3 papers

NM_006218.4

p.P134S

c.400C>T

1 paper

NM_006218.4

p.P134Q

c.401C>A

1 paper

NM_006218.4

p.P134L

c.401C>T

1 paper

NM_006218.4

p.D133N

c.397G>A

8 papers

NM_006218.4

p.K132N

c.396A>C

8 papers

NM_006218.4

p.K132N

c.396A>T