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

3 papers

NM_006218.4

p.S541P

c.1621T>C

Surrounding Variants

2 papers

NM_006218.4

p.L540L

c.1620C>A

1 paper

NM_006218.4

p.S541Y

c.1622C>A

7 papers

NM_006218.4

p.S541F

c.1622C>T

2 papers

NM_006218.4

p.L540H

c.1619T>A

3 papers

NM_006218.4

p.L540P

c.1619T>C

2 papers

NM_006218.4

p.S541S

c.1623T>C

4 papers

NM_006218.4

p.L540V

c.1618C>G

3 papers

NM_006218.4

p.L540F

c.1618C>T

2541 papers

NM_006218.4

p.E542K

c.1624G>A

120 papers

NM_006218.4

p.E542Q

c.1624G>C

17 papers

NM_006218.4

p.E542*

c.1624G>T

1 paper

NM_006218.4

p.E542delins

c.1624_1625delinsAG