Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C3
Variant:p.C54_S55del1

PIK3C3

241 papers

Pfam Domains

PI3K_C2aa 53–198UCSCPhosphoinositide 3-kinase C2
PI3Kaaa 284–530UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)
PI3_PI4_kinaseaa 630–833UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 3-kinase catalytic subunit type 3

HGNC Alias Symbols

Vps34; hVps34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002647.4
p.C54_S55del1
c.161_163delGCT
Surrounding Variants
1 paper
NM_002647.4
p.C54delFs
c.161delG
2 papers
NM_002647.4
p.Q51E
c.151C>G
1 paper
NM_002647.4
p.G48R
c.142G>A
1 paper
NM_002647.4
p.G48R
c.142G>C
1 paper
NM_002647.4
p.K45R
c.134A>G
1 paper
NM_002647.4
p.Q62delFs
c.186delA
1 paper
NM_002647.4
p.F64insFs
c.192dupT
2 papers
NM_002647.4
p.M43V
c.127A>G
1 paper
NM_002647.4
p.A65fs
c.193_194fs
1 paper
NM_002647.4
p.P42insFs
c.124_125insAA
2 papers
NM_002647.4
p.P42S
c.124C>T
1 paper
NM_002647.4
p.P42fs
c.124_125fs
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