Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.S275S

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
2 papers
NM_006218.4
p.S275S
c.825C>T
Surrounding Variants
2 papers
NM_006218.4
p.S275N
c.824G>A
2 papers
NM_006218.4
p.S275C
c.823A>T
1 paper
NM_006218.4
p.C276*
c.828T>A
1 paper
NM_006218.4
p.I277V
c.829A>G
3 papers
NM_006218.4
p.R274K
c.821G>A
1 paper
NM_006218.4
p.R274delFs
c.821delG
1 paper
NM_006218.4
p.R274delins
c.820delinsA
2 papers
NM_006218.4
p.I273T
c.818T>C
3 papers
NM_006218.4
p.I273V
c.817A>G
1 paper
NM_006218.4
p.M278I
c.834G>A
1 paper
NM_006218.4
p.M278I
c.834G>C
1 paper
NM_006218.4
p.M278I
c.834G>T
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