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

21 papers

NM_006218.4

p.M1040I

c.3120G>T

Surrounding Variants

22 papers

NM_006218.4

p.M1040I

c.3120G>A

21 papers

NM_006218.4

p.M1040I

c.3120G>C

1 paper

NM_006218.4

p.K1041E

c.3121A>G

3 papers

NM_006218.4

p.M1040K

c.3119T>A

4 papers

NM_006218.4

p.M1040T

c.3119T>C

1 paper

NM_006218.4

p.M1040R

c.3119T>G

3 papers

NM_006218.4

p.M1040L

c.3118A>C

6 papers

NM_006218.4

p.M1040V

c.3118A>G

4 papers

NM_006218.4

p.M1040L

c.3118A>T

2 papers

NM_006218.4

p.K1041N

c.3123A>C

3 papers

NM_006218.4

p.K1041N

c.3123A>T

6 papers

NM_006218.4

p.F1039L

c.3117C>A