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

7 papers

NM_006218.4

p.R108L

c.323G>T

Surrounding Variants

195 papers

NM_006218.4

p.R108H

c.323G>A

2 papers

NM_006218.4

p.R108P

c.323G>C

3 papers

NM_006218.4

p.R108S

c.322C>A

1 paper

NM_006218.4

p.R108G

c.322C>G

24 papers

NM_006218.4

p.R108C

c.322C>T

1 paper

NM_006218.4

p.R108_E109del1

c.323_325delGTG

1 paper

NM_006218.4

p.E109delFs

c.325delG

110 papers

NM_006218.4

p.E110del1

c.328_329delGAA

1 paper

NM_006218.4

p.E109_I112del4

c.325_335del12

1 paper

NM_006218.4

p.N107K

c.321C>A

1 paper

NM_006218.4

p.N107K

c.321C>G

3 papers

NM_006218.4

p.R108del1

c.322_323delCGT