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.H47L

c.140A>T

Surrounding Variants

6 papers

NM_006218.4

p.H47R

c.140A>G

1 paper

NM_006218.4

p.H47N

c.139C>A

2 papers

NM_006218.4

p.H47Y

c.139C>T

1 paper

NM_006218.4

p.H47Fs

c.139delinsTTFs

1 paper

NM_006218.4

p.H47Q

c.141T>A

1 paper

NM_006218.4

p.E48Q

c.142G>C

1 paper

NM_006218.4

p.K46M

c.137A>T

1 paper

NM_006218.4

p.K46fs

c.136_137fs

1 paper

NM_006218.4

p.K46E

c.136A>G

1 paper

NM_006218.4

p.K46*

c.136A>T

1 paper

NM_006218.4

p.I45M

c.135A>G

2 papers

NM_006218.4

p.L49I

c.145C>A