Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.D1045D

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.D1045D
c.3135T>C
Surrounding Variants
3 papers
NM_006218.4
p.D1045A
c.3134A>C
6 papers
NM_006218.4
p.D1045V
c.3134A>T
19 papers
NM_006218.4
p.A1046T
c.3136G>A
1 paper
NM_006218.4
p.A1046S
c.3136G>T
6 papers
NM_006218.4
p.A1046E
c.3137C>A
1 paper
NM_006218.4
p.A1046G
c.3137C>G
20 papers
NM_006218.4
p.A1046V
c.3137C>T
20 papers
NM_006218.4
p.D1045N
c.3133G>A
2 papers
NM_006218.4
p.D1045Y
c.3133G>T
1 paper
NM_006218.4
p.A1046A
c.3138A>C
1 paper
NM_006218.4
p.A1046A
c.3138A>G
142 papers
NM_006218.4
p.N1044K
c.3132T>A
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