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

2 papers

NM_006218.4

p.E172*

c.514G>T

Surrounding Variants

1 paper

NM_006218.4

p.E172Q

c.514G>C

1 paper

NM_006218.4

p.E172delFs

c.514delG

3 papers

NM_006218.4

p.V171I

c.511G>A

1 paper

NM_006218.4

p.N170_V171delins

c.510_511delinsTT

1 paper

NM_006218.4

p.S173T

c.517T>A

1 paper

NM_006218.4

p.S173insFs

c.517_518insA

1 paper

NM_006218.4

p.S173_S174ins16

c.517_521ins48

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

1 paper

NM_006218.4

p.N170K

c.510T>G

2 papers

NM_006218.4

p.N170S

c.509A>G