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.K941N

c.2823G>T

Surrounding Variants

2 papers

NM_006218.4

p.K941N

c.2823G>C

1 paper

NM_006218.4

p.K942Q

c.2824A>C

1 paper

NM_006218.4

p.K942R

c.2825A>G

1 paper

NM_006218.4

p.K942M

c.2825A>T

1 paper

NM_006218.4

p.K943R

c.2828A>G

1 paper

NM_006218.4

p.K944fs

c.2830_2831fs

28 papers

NM_006218.4

p.D939G

c.2816A>G

1 paper

NM_006218.4

p.K944T

c.2831A>C

2 papers

NM_006218.4

p.D939N

c.2815G>A

1 paper

NM_006218.4

p.D939_H940insAAG

c.2815_2819ins9

2 papers

NM_006218.4

p.K944N

c.2832A>C

2 papers

NM_006218.4

p.K944N

c.2832A>T