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.S292N

c.875G>A

Surrounding Variants

2 papers

NM_006218.4

p.S292I

c.875G>T

1 paper

NM_006218.4

p.S292R

c.876C>G

1 paper

NM_006218.4

p.L293V

c.877C>G

1 paper

NM_006218.4

p.Y294delFs

c.880delT

3 papers

NM_006218.4

p.E291A

c.872A>C

6 papers

NM_006218.4

p.L293H

c.878T>A

3 papers

NM_006218.4

p.E291K

c.871G>A

1 paper

NM_006218.4

p.E291Q

c.871G>C

1 paper

NM_006218.4

p.E291*

c.871G>T

1 paper

NM_006218.4

p.E291fs

c.871_872fs

2 papers

NM_006218.4

p.K290R

c.869A>G

1 paper

NM_006218.4

p.K290I

c.869A>T