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

2 papers

NM_006218.4

p.N370S

c.1109A>G

Surrounding Variants

2 papers

NM_006218.4

p.N370D

c.1108A>G

2 papers

NM_006218.4

p.N370_Q374del5

c.1108_1121del15

2 papers

NM_006218.4

p.V371M

c.1111G>A

1 paper

NM_006218.4

p.V371_N372insT

c.1111_1115ins3

1 paper

NM_006218.4

p.V371A

c.1112T>C

1 paper

NM_006218.4

p.D369H

c.1105G>C

1 paper

NM_006218.4

p.D369fs

c.1105_1106fs

1 paper

NM_006218.4

p.D369Y

c.1105G>T

1 paper

NM_006218.4

p.V371V

c.1113G>T

1 paper

NM_006218.4

p.N372_P381del10

c.1114_1142del30

1 paper

NM_006218.4

p.N372_T373ins4

c.1114_1118ins12

2 papers

NM_006218.4

p.N372H

c.1114A>C