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.W479C

c.1437G>T

Surrounding Variants

1 paper

NM_006218.4

p.W479C

c.1437G>C

1 paper

NM_006218.4

p.W479*

c.1436G>A

1 paper

NM_006218.4

p.W479S

c.1436G>C

1 paper

NM_006218.4

p.W479L

c.1436G>T

1 paper

NM_006218.4

p.W479R

c.1435T>A

1 paper

NM_006218.4

p.W479R

c.1435T>C

2 papers

NM_006218.4

p.D478Y

c.1432G>T

1 paper

NM_006218.4

p.S481S

c.1443C>T

1 paper

NM_006218.4

p.F477_D478delFs

c.1431_1432delTG

1 paper

NM_006218.4

p.S482N

c.1445G>A

1 paper

NM_006218.4

p.F477delFs

c.1429delT

1 paper

NM_006218.4

p.V483M

c.1447G>A