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.F82L

c.246T>G

Surrounding Variants

1 paper

NM_006218.4

p.F82L

c.246T>A

1 paper

NM_006218.4

p.F83_E85delFs

c.247_253del7

1 paper

NM_006218.4

p.F83I

c.247T>A

2 papers

NM_006218.4

p.F83L

c.247T>C

1 paper

NM_006218.4

p.F82S

c.245T>C

2 papers

NM_006218.4

p.F83V

c.247T>G

19 papers

NM_006218.4

p.F83S

c.248T>C

1 paper

NM_006218.4

p.F82L

c.244T>C

4 papers

NM_006218.4

p.F83C

c.248T>G

1 paper

NM_006218.4

p.F82V

c.244T>G

1 paper

NM_006218.4

p.F82fs

c.244_245fs

1 paper

NM_006218.4

p.D84_C90del7

c.250_269del21