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.R808W

c.2422C>T

Surrounding Variants

1 paper

NM_006218.4

p.L807F

c.2421A>T

3 papers

NM_006218.4

p.R808Q

c.2423G>A

1 paper

NM_006218.4

p.Q809fs

c.2425_2426fs

1 paper

NM_006218.4

p.L807I

c.2419T>A

1 paper

NM_006218.4

p.L807V

c.2419T>G

2 papers

NM_006218.4

p.Q809R

c.2426A>G

2 papers

NM_006218.4

p.D810A

c.2429A>C

1 paper

NM_006218.4

p.L812P

c.2435T>C

1 paper

NM_006218.4

p.T813K

c.2438C>A

1 paper

NM_006218.4

p.Q815K

c.2443C>A

1 paper

NM_006218.4

p.I816V

c.2446A>G

2 papers

NM_006218.4

p.I816T

c.2447T>C