Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.Q969insFs

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.Q969insFs
c.2906_2907insC
Surrounding Variants
1 paper
NM_006218.4
p.Q969R
c.2906A>G
1 paper
NM_006218.4
p.Q969L
c.2906A>T
1 paper
NM_006218.4
p.Q969K
c.2905C>A
1 paper
NM_006218.4
p.Q969_E970insG
c.2905_2909ins3
1 paper
NM_006218.4
p.Q969fs
c.2905_2906fs
49 papers
NM_006218.4
p.E970K
c.2908G>A
1 paper
NM_006218.4
p.E970Q
c.2908G>C
1 paper
NM_006218.4
p.E970A
c.2909A>C
1 paper
NM_006218.4
p.E970G
c.2909A>G
1 paper
NM_006218.4
p.A968_Q969insA
c.2902_2906ins3
2 papers
NM_006218.4
p.C971S
c.2911T>A
5 papers
NM_006218.4
p.C971R
c.2911T>C
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