Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT

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
1–12 of 60 variants
9 papers
NM_016581.5
p.V140A
c.419T>C
4 papers
NM_016581.5
p.Q261fs
c.781_782fs
3 papers
NM_016581.5
p.Q261delFs
c.781delG
2 papers
NM_016581.5
p.R124Q
c.371G>A
2 papers
NM_016581.5
p.E408E
c.1224G>A
1 paper
NM_016581.5
p.G12C
c.34G>T
1 paper
NM_016581.5
p.R35H
c.104G>A
1 paper
NM_016581.5
p.R39W
c.115C>T
1 paper
NM_016581.5
p.F72_E73insFs
c.216_217insA
1 paper
NM_016581.5
p.G82A
c.245G>C
1 paper
NM_016581.5
p.G82E
c.245G>A
1 paper
NM_016581.5
p.A87V
c.260C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."