Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.Q158insFs

ECSIT

68 papers

Pfam Domains

ECSIT_Naa 73–253UCSCEvolutionarily conserved signalling intermediate in Toll pathway
ECSIT_Caa 269–393UCSCC-terminal domain of the ECSIT protein

Gene Aliases

HGNC Name

ECSIT signaling integrator

HGNC Alias Symbol

SITPEC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016581.5
p.Q158insFs
c.472_473insC
Surrounding Variants
1 paper
NM_016581.5
p.E159*
c.475G>T
1 paper
NM_016581.5
p.V152I
c.454G>A
1 paper
NM_016581.5
p.R149H
c.446G>A
1 paper
NM_016581.5
p.R142W
c.424C>T
9 papers
NM_016581.5
p.V140A
c.419T>C
1 paper
NM_016581.5
p.N134delFs
c.401delT
1 paper
NM_016581.5
p.N134fs
c.400_401fs
1 paper
NM_016581.5
p.D125_L126del1
c.374_376delGGT
1 paper
NM_016581.5
p.E123_R124delFs
c.369_370delGC
2 papers
NM_016581.5
p.R124Q
c.371G>A
1 paper
NM_016581.5
p.R124G
c.370C>G
1 paper
NM_016581.5
p.R118Q
c.353G>A
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