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.E542D

c.1626A>C

Surrounding Variants

1 paper

NM_006218.4

p.E542D

c.1626A>T

56 papers

NM_006218.4

p.E542A

c.1625A>C

55 papers

NM_006218.4

p.E542G

c.1625A>G

6 papers

NM_006218.4

p.I543V

c.1627A>G

89 papers

NM_006218.4

p.E542V

c.1625A>T

2 papers

NM_006218.4

p.I543F

c.1627A>T

2541 papers

NM_006218.4

p.E542K

c.1624G>A

120 papers

NM_006218.4

p.E542Q

c.1624G>C

17 papers

NM_006218.4

p.E542*

c.1624G>T

1 paper

NM_006218.4

p.E542delins

c.1624_1625delinsAG

1 paper

NM_006218.4

p.E542fs

c.1624_1625fs

5 papers

NM_006218.4

p.I543T

c.1628T>C