Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CA
Variant:p.N372H

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.N372H
c.1114A>C
Surrounding Variants
1 paper
NM_006218.4
p.N372_T373ins4
c.1114_1118ins12
1 paper
NM_006218.4
p.N372delFs
c.1115_1116delAC
1 paper
NM_006218.4
p.V371V
c.1113G>T
1 paper
NM_006218.4
p.N372_P381del10
c.1114_1142del30
1 paper
NM_006218.4
p.N372K
c.1116C>A
1 paper
NM_006218.4
p.N372K
c.1116C>G
1 paper
NM_006218.4
p.N372N
c.1116C>T
1 paper
NM_006218.4
p.V371A
c.1112T>C
2 papers
NM_006218.4
p.V371M
c.1111G>A
1 paper
NM_006218.4
p.V371_N372insT
c.1111_1115ins3
1 paper
NM_006218.4
p.T373N
c.1118C>A
2 papers
NM_006218.4
p.N370S
c.1109A>G
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