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.E52Q

c.154G>C

Surrounding Variants

4 papers

NM_006218.4

p.E52K

c.154G>A

1 paper

NM_006218.4

p.E52insFs

c.155_156ins5

1 paper

NM_006218.4

p.K51N

c.153A>C

2 papers

NM_006218.4

p.E52G

c.155A>G

2 papers

NM_006218.4

p.E52V

c.155A>T

1 paper

NM_006218.4

p.K51N

c.153A>T

1 paper

NM_006218.4

p.K51I

c.152A>T

1 paper

NM_006218.4

p.A53_R54delFs

c.157_161del5

1 paper

NM_006218.4

p.A53_S66del14

c.157_197del42

1 paper

NM_006218.4

p.K51E

c.151A>G

1 paper

NM_006218.4

p.E52_A53del1

c.155_157delAAG

8 papers

NM_006218.4

p.A53T

c.157G>A