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

2 papers

NM_006218.4

p.F128L

c.384T>A

Surrounding Variants

2 papers

NM_006218.4

p.F128L

c.384T>G

1 paper

NM_006218.4

p.D129N

c.385G>A

2 papers

NM_006218.4

p.D129H

c.385G>C

1 paper

NM_006218.4

p.D129_M130insT

c.385_389ins3

1 paper

NM_006218.4

p.D129Y

c.385G>T

4 papers

NM_006218.4

p.F128Y

c.383T>A

1 paper

NM_006218.4

p.D129A

c.386A>C

3 papers

NM_006218.4

p.F128I

c.382T>A

2 papers

NM_006218.4

p.F128L

c.382T>C

1 paper

NM_006218.4

p.F128_D129insC

c.382_386ins3

1 paper

NM_006218.4

p.E127D

c.381A>T

1 paper

NM_006218.4

p.M130L

c.388A>C