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.W552L

c.1655G>T

Surrounding Variants

7 papers

NM_006218.4

p.W552*

c.1655G>A

6 papers

NM_006218.4

p.W552*

c.1656G>A

3 papers

NM_006218.4

p.W552C

c.1656G>C

3 papers

NM_006218.4

p.W552C

c.1656G>T

1 paper

NM_006218.4

p.W552R

c.1654T>A

1 paper

NM_006218.4

p.W552R

c.1654T>C

6 papers

NM_006218.4

p.W552G

c.1654T>G

1 paper

NM_006218.4

p.L551_H554delins

c.1653_1660delinsAA

5 papers

NM_006218.4

p.S553fs

c.1657_1658fs

1 paper

NM_006218.4

p.S553delFs

c.1658delG

8 papers

NM_006218.4

p.S553fs

c.1657_1658fs

6 papers

NM_006218.4

p.S553N

c.1658G>A