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

4 papers

NM_006218.4

p.E321K

c.961G>A

Surrounding Variants

2 papers

NM_006218.4

p.E321insFs

c.962_963insA

1 paper

NM_006218.4

p.E321delFs

c.963delA

1 paper

NM_006218.4

p.E321G

c.962A>G

5 papers

NM_006218.4

p.E321D

c.963A>C

5 papers

NM_006218.4

p.E321D

c.963A>T

1 paper

NM_006218.4

p.G320A

c.959G>C

1 paper

NM_006218.4

p.G320V

c.959G>T

1 paper

NM_006218.4

p.T322insFs

c.965_966insC

1 paper

NM_006218.4

p.T322S

c.964A>T

3 papers

NM_006218.4

p.G320R

c.958G>A

3 papers

NM_006218.4

p.G320R

c.958G>C

1 paper

NM_006218.4

p.S323_K325del3

c.967_974del9