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.D454Y

c.1360G>T

Surrounding Variants

5 papers

NM_006218.4

p.D454N

c.1360G>A

1 paper

NM_006218.4

p.D454H

c.1360G>C

3 papers

NM_006218.4

p.E453D

c.1359A>C

4 papers

NM_006218.4

p.D454G

c.1361A>G

3 papers

NM_006218.4

p.E453D

c.1359A>T

7 papers

NM_006218.4

p.E453A

c.1358A>C

6 papers

NM_006218.4

p.E453G

c.1358A>G

3 papers

NM_006218.4

p.E453V

c.1358A>T

1 paper

NM_006218.4

p.D454_S464del11

c.1360_1391del33

2 papers

NM_006218.4

p.L455del1

c.1363_1364delTTG

293 papers

NM_006218.4

p.E453K

c.1357G>A

71 papers

NM_006218.4

p.E453Q

c.1357G>C