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.P175S

c.523C>T

Surrounding Variants

1 paper

NM_006218.4

p.S174_P175insFs

c.522_523insC

1 paper

NM_006218.4

p.P175delFs

c.524delC

2 papers

NM_006218.4

p.P175L

c.524C>T

1 paper

NM_006218.4

p.S174*

c.521C>A

1 paper

NM_006218.4

p.S174*

c.521C>G

1 paper

NM_006218.4

p.S174A

c.520T>G

1 paper

NM_006218.4

p.E176G

c.527A>G

3 papers

NM_006218.4

p.S173Y

c.518C>A

1 paper

NM_006218.4

p.S173C

c.518C>G

1 paper

NM_006218.4

p.S173F

c.518C>T

2 papers

NM_006218.4

p.L177M

c.529T>A

1 paper

NM_006218.4

p.S173T

c.517T>A