Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.E1012Q

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
5 papers
NM_006218.4
p.E1012Q
c.3034G>C
Surrounding Variants
6 papers
NM_006218.4
p.E1012K
c.3034G>A
2 papers
NM_006218.4
p.E1012_L1013insT
c.3034_3038ins3
1 paper
NM_006218.4
p.E1012*
c.3034G>T
2 papers
NM_006218.4
p.P1011P
c.3033A>G
2 papers
NM_006218.4
p.E1012G
c.3035A>G
2 papers
NM_006218.4
p.E1012D
c.3036A>C
2 papers
NM_006218.4
p.E1012D
c.3036A>T
1 paper
NM_006218.4
p.P1011Q
c.3032C>A
5 papers
NM_006218.4
p.P1011L
c.3032C>T
1 paper
NM_006218.4
p.P1011T
c.3031C>A
1 paper
NM_006218.4
p.L1013I
c.3037C>A
7 papers
NM_006218.4
p.P1011S
c.3031C>T
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