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.T727A

c.2179A>G

Surrounding Variants

1 paper

NM_006218.4

p.T727fs

c.2179_2180fs

1 paper

NM_006218.4

p.T727R

c.2180C>G

2 papers

NM_006218.4

p.T727I

c.2180C>T

5 papers

NM_006218.4

p.E726A

c.2177A>C

9 papers

NM_006218.4

p.E726G

c.2177A>G

1 paper

NM_006218.4

p.E726V

c.2177A>T

1 paper

NM_006218.4

p.T727T

c.2181A>T

1 paper

NM_006218.4

p.Q728K

c.2182C>A

306 papers

NM_006218.4

p.E726K

c.2176G>A

2 papers

NM_006218.4

p.E726Q

c.2176G>C

1 paper

NM_006218.4

p.T727insFs

c.2179dupA

1 paper

NM_006218.4

p.E726*

c.2176G>T