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

142 papers

NM_006218.4

p.N1044K

c.3132T>A

Surrounding Variants

138 papers

NM_006218.4

p.N1044K

c.3132T>G

4 papers

NM_006218.4

p.N1044T

c.3131A>C

36 papers

NM_006218.4

p.N1044S

c.3131A>G

2 papers

NM_006218.4

p.N1044I

c.3131A>T

20 papers

NM_006218.4

p.D1045N

c.3133G>A

2 papers

NM_006218.4

p.D1045Y

c.3133G>T

7 papers

NM_006218.4

p.N1044H

c.3130A>C

3 papers

NM_006218.4

p.D1045A

c.3134A>C

12 papers

NM_006218.4

p.N1044D

c.3130A>G

22 papers

NM_006218.4

p.N1044Y

c.3130A>T

6 papers

NM_006218.4

p.D1045V

c.3134A>T

398 papers

NM_006218.4

p.M1043I

c.3129G>A