Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.L686L

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.L686L
c.2056C>T
Surrounding Variants
1 paper
NM_006218.4
p.L686M
c.2056C>A
1 paper
NM_006218.4
p.G685G
c.2055C>G
1 paper
NM_006218.4
p.L686Q
c.2057T>A
2 papers
NM_006218.4
p.L686R
c.2057T>G
1 paper
NM_006218.4
p.L686delins
c.2057_2058delinsGA
2 papers
NM_006218.4
p.G685D
c.2054G>A
1 paper
NM_006218.4
p.G685A
c.2054G>C
1 paper
NM_006218.4
p.L686L
c.2058G>C
1 paper
NM_006218.4
p.G685V
c.2054G>T
2 papers
NM_006218.4
p.L687I
c.2059C>A
1 paper
NM_006218.4
p.L687_L688insG
c.2059_2063ins3
1 paper
NM_006218.4
p.G685S
c.2053G>A
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