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.Q546delFs

c.1636delC

Surrounding Variants

5 papers

NM_006218.4

p.E545E

c.1635G>A

203 papers

NM_006218.4

p.E545D

c.1635G>C

207 papers

NM_006218.4

p.E545D

c.1635G>T

506 papers

NM_006218.4

p.E545A

c.1634A>C

435 papers

NM_006218.4

p.E545G

c.1634A>G

21 papers

NM_006218.4

p.E545V

c.1634A>T

550 papers

NM_006218.4

p.Q546K

c.1636C>A

174 papers

NM_006218.4

p.Q546E

c.1636C>G

14 papers

NM_006218.4

p.Q546*

c.1636C>T

155 papers

NM_006218.4

p.Q546P

c.1637A>C

320 papers

NM_006218.4

p.Q546R

c.1637A>G

60 papers

NM_006218.4

p.Q546L

c.1637A>T