Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.R296H

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.R296H
c.887G>A
Surrounding Variants
1 paper
NM_016581.5
p.A307S
c.919G>T
1 paper
NM_016581.5
p.Q268*
c.802C>T
1 paper
NM_016581.5
p.E323A
c.968A>C
1 paper
NM_016581.5
p.Y327F
c.980A>T
1 paper
NM_016581.5
p.Y328F
c.983A>T
4 papers
NM_016581.5
p.Q261fs
c.781_782fs
1 paper
NM_016581.5
p.Q261insFs
c.781dupC
3 papers
NM_016581.5
p.Q261delFs
c.781delG
1 paper
NM_016581.5
p.D333Y
c.997G>T
1 paper
NM_016581.5
p.P260S
c.778C>T
1 paper
NM_016581.5
p.P259R
c.776C>G
1 paper
NM_016581.5
p.D258N
c.772G>A
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