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.R524M

c.1571G>T

Surrounding Variants

32 papers

NM_006218.4

p.R524K

c.1571G>A

1 paper

NM_006218.4

p.R524G

c.1570A>G

1 paper

NM_006218.4

p.R524W

c.1570A>T

1 paper

NM_006218.4

p.R524_N526delFs

c.1571_1578del8

1 paper

NM_006218.4

p.R524R

c.1572G>A

3 papers

NM_006218.4

p.R524S

c.1572G>C

1 paper

NM_006218.4

p.R524_E525insFs

c.1572_1573insCT

3 papers

NM_006218.4

p.R524S

c.1572G>T

1 paper

NM_006218.4

p.R524_E525delins

c.1572_1573delinsAC

2 papers

NM_006218.4

p.L523L

c.1569A>G

1 paper

NM_006218.4

p.L523F

c.1569A>T

1 paper

NM_006218.4

p.R524del1

c.1570_1571delAGG