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.H450delins

c.1348delinsGGGGGGAAAAAAA

Surrounding Variants

1 paper

NM_006218.4

p.H450D

c.1348C>G

2 papers

NM_006218.4

p.H450Y

c.1348C>T

1 paper

NM_006218.4

p.G451_D454del0

c.1351_1362del12

3 papers

NM_006218.4

p.H450_L455del0

c.1349_1363del15

6 papers

NM_006218.4

p.H450R

c.1349A>G

1 paper

NM_006218.4

p.H450L

c.1349A>T

1 paper

NM_006218.4

p.G451_G460del0

c.1351_1380del30

1 paper

NM_006218.4

p.H450_L456del0

c.1349_1366del18

6 papers

NM_006218.4

p.P449R

c.1346C>G

10 papers

NM_006218.4

p.P449L

c.1346C>T

1 paper

NM_006218.4

p.H450del1

c.1348_1349delCAT

1 paper

NM_006218.4

p.P449_G451delFs

c.1347_1351del5