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

67 papers

NM_006218.4

p.P104L

c.311C>T

Surrounding Variants

2 papers

NM_006218.4

p.P104Q

c.311C>A

11 papers

NM_006218.4

p.P104R

c.311C>G

6 papers

NM_006218.4

p.V105del1

c.313_314delGTA

1 paper

NM_006218.4

p.P104_R108del0

c.312_323del12

1 paper

NM_006218.4

p.V105_E109del5

c.313_326del15

2 papers

NM_006218.4

p.V105_E109del0

c.314_325del12

3 papers

NM_006218.4

p.P104T

c.310C>A

1 paper

NM_006218.4

p.P104fs

c.310_311fs

5 papers

NM_006218.4

p.P104S

c.310C>T

1 paper

NM_006218.4

p.P104_V105del1

c.311_313delCAG

2 papers

NM_006218.4

p.P104_G106del0

c.311_316del6

1 paper

NM_006218.4

p.E103D

c.309A>C