Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.F550L

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
1 paper
NM_006218.4
p.F550L
c.1650T>A
Surrounding Variants
1 paper
NM_006218.4
p.F550L
c.1650T>G
2 papers
NM_006218.4
p.L551I
c.1651C>A
3 papers
NM_006218.4
p.L551V
c.1651C>G
3 papers
NM_006218.4
p.L551L
c.1651C>T
1 paper
NM_006218.4
p.F550S
c.1649T>C
1 paper
NM_006218.4
p.L551Q
c.1652T>A
1 paper
NM_006218.4
p.F550L
c.1648T>C
1 paper
NM_006218.4
p.F550_L551insC
c.1648_1652ins3
1 paper
NM_006218.4
p.D549E
c.1647T>A
2 papers
NM_006218.4
p.D549E
c.1647T>G
1 paper
NM_006218.4
p.F550_H554del5
c.1648_1661del15
2 papers
NM_006218.4
p.D549A
c.1646A>C
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