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.M820L

c.2458A>C

Surrounding Variants

1 paper

NM_006218.4

p.M820L

c.2458A>T

2 papers

NM_006218.4

p.E821K

c.2461G>A

1 paper

NM_006218.4

p.E821Q

c.2461G>C

1 paper

NM_006218.4

p.E821A

c.2462A>C

3 papers

NM_006218.4

p.R818H

c.2453G>A

1 paper

NM_006218.4

p.N822H

c.2464A>C

5 papers

NM_006218.4

p.N822Y

c.2464A>T

9 papers

NM_006218.4

p.R818C

c.2452C>T

2 papers

NM_006218.4

p.N822I

c.2465A>T

15 papers

NM_006218.4

p.N822K

c.2466T>A

1 paper

NM_006218.4

p.I817N

c.2450T>A

15 papers

NM_006218.4

p.N822K

c.2466T>G