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.R992L

c.2975G>T

Surrounding Variants

6 papers

NM_006218.4

p.R992Q

c.2975G>A

2 papers

NM_006218.4

p.R992P

c.2975G>C

5 papers

NM_006218.4

p.R992*

c.2974C>T

1 paper

NM_006218.4

p.I991L

c.2971A>C

1 paper

NM_006218.4

p.I991F

c.2971A>T

1 paper

NM_006218.4

p.Q993Q

c.2979G>A

3 papers

NM_006218.4

p.H994Y

c.2980C>T

1 paper

NM_006218.4

p.A990A

c.2970T>A

2 papers

NM_006218.4

p.A990A

c.2970T>C

3 papers

NM_006218.4

p.H994R

c.2981A>G

1 paper

NM_006218.4

p.H994L

c.2981A>T

1 paper

NM_006218.4

p.A990D

c.2969C>A