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.E674Q

c.2020G>C

Surrounding Variants

1 paper

NM_006218.4

p.E674_M675ins16

c.2020_2024ins48

1 paper

NM_006218.4

p.E674*

c.2020G>T

1 paper

NM_006218.4

p.M675fs

c.2023_2024fs

1 paper

NM_006218.4

p.M675V

c.2023A>G

2 papers

NM_006218.4

p.S673T

c.2017T>A

1 paper

NM_006218.4

p.M675I

c.2025G>A

1 paper

NM_006218.4

p.M675I

c.2025G>C

1 paper

NM_006218.4

p.M675I

c.2025G>T

1 paper

NM_006218.4

p.H676P

c.2027A>C

1 paper

NM_006218.4

p.K678E

c.2032A>G

1 paper

NM_006218.4

p.V680_S681delFs

c.2039_2042del4

1 paper

NM_006218.4

p.T679_V680insFs

c.2037_2038insT