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

2 papers

NM_006218.4

p.E547A

c.1640A>C

Surrounding Variants

4 papers

NM_006218.4

p.E547G

c.1640A>G

23 papers

NM_006218.4

p.E547K

c.1639G>A

3 papers

NM_006218.4

p.E547E

c.1641G>A

4 papers

NM_006218.4

p.E547D

c.1641G>C

2 papers

NM_006218.4

p.E547Q

c.1639G>C

5 papers

NM_006218.4

p.E547D

c.1641G>T

1 paper

NM_006218.4

p.K548delFs

c.1644delA

1 paper

NM_006218.4

p.K548delFs

c.1642_1643delAA

1 paper

NM_006218.4

p.K548fs

c.1642_1643fs

3 papers

NM_006218.4

p.Q546Q

c.1638G>A

74 papers

NM_006218.4

p.Q546H

c.1638G>C

74 papers

NM_006218.4

p.Q546H

c.1638G>T