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.K948K

c.2844A>G

Surrounding Variants

1 paper

NM_006218.4

p.R949*

c.2845C>T

2 papers

NM_006218.4

p.K948E

c.2842A>G

5 papers

NM_006218.4

p.R949Q

c.2846G>A

1 paper

NM_006218.4

p.E950_P953del4

c.2848_2858del12

2 papers

NM_006218.4

p.Y947_K948ins1

c.2841_2842insATA

1 paper

NM_006218.4

p.E950A

c.2849A>C

1 paper

NM_006218.4

p.Y947H

c.2839T>C

1 paper

NM_006218.4

p.R951S

c.2851C>A

1 paper

NM_006218.4

p.R951C

c.2851C>T

2 papers

NM_006218.4

p.G946D

c.2837G>A

1 paper

NM_006218.4

p.G946A

c.2837G>C

3 papers

NM_006218.4

p.R951H

c.2852G>A