Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.E123_R124delFs

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.E123_R124delFs
c.369_370delGC
Surrounding Variants
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.D125_L126del1
c.374_376delGGT
1 paper
NM_016581.5
p.R118Q
c.353G>A
1 paper
NM_016581.5
p.R115H
c.344G>A
1 paper
NM_016581.5
p.N134fs
c.400_401fs
1 paper
NM_016581.5
p.R115C
c.343C>T
1 paper
NM_016581.5
p.N134delFs
c.401delT
9 papers
NM_016581.5
p.V140A
c.419T>C
1 paper
NM_016581.5
p.R142W
c.424C>T
1 paper
NM_016581.5
p.H106R
c.317A>G
1 paper
NM_016581.5
p.R102C
c.304C>T
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