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.A40P

c.118G>C

Surrounding Variants

2 papers

NM_006218.4

p.A40T

c.118G>A

1 paper

NM_006218.4

p.A40S

c.118G>T

1 paper

NM_006218.4

p.A40delFs

c.119_120delCT

1 paper

NM_006218.4

p.E39E

c.117G>A

13 papers

NM_006218.4

p.T41A

c.121A>G

1 paper

NM_006218.4

p.T41S

c.121A>T

1 paper

NM_006218.4

p.L42_A53del0

c.124_159del36

45 papers

NM_006218.4

p.E39K

c.115G>A

1 paper

NM_006218.4

p.E39Q

c.115G>C

1 paper

NM_006218.4

p.E39ins2

c.116_117ins6

6 papers

NM_006218.4

p.T41I

c.122C>T

1 paper

NM_006218.4

p.L42Fs

c.125delinsTTFs