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

3540 papers

NM_006218.4

p.H1047R

c.3140A>G

Surrounding Variants

1 paper

NM_006218.4

p.H1047insFs

c.3141dupT

13 papers

NM_006218.4

p.H1047P

c.3140A>C

1126 papers

NM_006218.4

p.H1047L

c.3140A>T

7 papers

NM_006218.4

p.H1047N

c.3139C>A

1 paper

NM_006218.4

p.H1047D

c.3139C>G

400 papers

NM_006218.4

p.H1047Y

c.3139C>T

64 papers

NM_006218.4

p.H1047Q

c.3141T>A

63 papers

NM_006218.4

p.H1047Q

c.3141T>G

1 paper

NM_006218.4

p.A1046A

c.3138A>C

1 paper

NM_006218.4

p.A1046A

c.3138A>G

1 paper

NM_006218.4

p.H1048N

c.3142C>A

1 paper

NM_006218.4

p.H1048insFs

c.3143_3144insA