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.E418_P421del0

c.1253_1261del9

Surrounding Variants

87 papers

NM_006218.4

p.E418K

c.1252G>A

1 paper

NM_006218.4

p.E418*

c.1252G>T

1 paper

NM_006218.4

p.E418G

c.1253A>G

3 papers

NM_006218.4

p.E418_P421del0

c.1254_1262del9

1 paper

NM_006218.4

p.E418_P421delins

c.1253_1262delinsT

1 paper

NM_006218.4

p.E418D

c.1254A>C

1 paper

NM_006218.4

p.E418D

c.1254A>T

2 papers

NM_006218.4

p.H419_P421del0

c.1256_1261del6

1 paper

NM_006218.4

p.H419N

c.1255C>A

1 paper

NM_006218.4

p.H419_P421delins

c.1255_1262delinsAT

1 paper

NM_006218.4

p.H419P

c.1256A>C

1 paper

NM_006218.4

p.H419R

c.1256A>G