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.N467Fs

c.1401delinsTGFs

Surrounding Variants

2 papers

NM_006218.4

p.K468delFs

c.1404delA

2 papers

NM_006218.4

p.K468fs

c.1402_1403fs

1 paper

NM_006218.4

p.N467S

c.1400A>G

1 paper

NM_006218.4

p.K468T

c.1403A>C

1 paper

NM_006218.4

p.N467D

c.1399A>G

1 paper

NM_006218.4

p.P466P

c.1398A>C

1 paper

NM_006218.4

p.K468N

c.1404A>C

1 paper

NM_006218.4

p.K468N

c.1404A>T

1 paper

NM_006218.4

p.P466Q

c.1397C>A

1 paper

NM_006218.4

p.P466R

c.1397C>G

1 paper

NM_006218.4

p.P466L

c.1397C>T

2 papers

NM_006218.4

p.K468_E469Splc

c.1404+1G>A