Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.K1030E

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
6 papers
NM_006218.4
p.K1030E
c.3088A>G
Surrounding Variants
2 papers
NM_006218.4
p.K1030R
c.3089A>G
2 papers
NM_006218.4
p.D1029E
c.3087T>A
3 papers
NM_006218.4
p.D1029E
c.3087T>G
1 paper
NM_006218.4
p.D1029A
c.3086A>C
3 papers
NM_006218.4
p.D1029G
c.3086A>G
1 paper
NM_006218.4
p.D1029V
c.3086A>T
2 papers
NM_006218.4
p.T1031A
c.3091A>G
8 papers
NM_006218.4
p.D1029N
c.3085G>A
15 papers
NM_006218.4
p.D1029H
c.3085G>C
5 papers
NM_006218.4
p.D1029Y
c.3085G>T
1 paper
NM_006218.4
p.D1029_K1030delFs
c.3087_3088delTA
6 papers
NM_006218.4
p.T1031I
c.3092C>T
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