Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.S312F

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.S312F
c.935C>T
Surrounding Variants
1 paper
NM_006218.4
p.S312Y
c.935C>A
1 paper
NM_006218.4
p.T313delFs
c.937delA
1 paper
NM_006218.4
p.A314_P316del3
c.940_947del9
1 paper
NM_006218.4
p.T313K
c.938C>A
1 paper
NM_006218.4
p.I311T
c.932T>C
1 paper
NM_006218.4
p.S312_A314del3
c.934_941del9
1 paper
NM_006218.4
p.S312_S323del12
c.934_968del36
1 paper
NM_006218.4
p.T313_A314ins1
c.939_940insAAG
3 papers
NM_006218.4
p.I311V
c.931A>G
1 paper
NM_006218.4
p.I311del1
c.931_932delATT
1 paper
NM_006218.4
p.I311_P316del6
c.931_947del18
1 paper
NM_006218.4
p.A314T
c.940G>A
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