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

4 papers

NM_006218.4

p.L99F

c.297A>T

Surrounding Variants

3 papers

NM_006218.4

p.L99F

c.297A>C

1 paper

NM_006218.4

p.L99L

c.297A>G

1 paper

NM_006218.4

p.I102ins16

c.304_305ins48

3 papers

NM_006218.4

p.K100*

c.298A>T

1 paper

NM_006218.4

p.K100_R115ins5

c.298_345dup48

1 paper

NM_006218.4

p.K100T

c.299A>C

1 paper

NM_006218.4

p.K100I

c.299A>T

2 papers

NM_006218.4

p.K100_P104del0

c.300_311del12

1 paper

NM_006218.4

p.L99fs

c.295_296fs

1 paper

NM_006218.4

p.K100N

c.300A>C

2 papers

NM_006218.4

p.K100N

c.300A>T

1 paper

NM_006218.4

p.F98L

c.294T>A