Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.P413S

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.P413S
c.1237C>T
Surrounding Variants
2 papers
NM_016581.5
p.E408E
c.1224G>A
1 paper
NM_016581.5
p.G406R
c.1216G>C
1 paper
NM_016581.5
p.G406R
c.1216G>A
1 paper
NM_016581.5
p.N422K
c.1266C>G
1 paper
NM_016581.5
p.G395W
c.1183G>T
1 paper
NM_016581.5
p.L393H
c.1178T>A
1 paper
NM_016581.5
p.V390insFs
c.1168_1169insC
1 paper
NM_016581.5
p.L377Q
c.1130T>A
1 paper
NM_016581.5
p.I374_G376del3
c.1120_1127del9
1 paper
NM_016581.5
p.T369_M370del2
c.1105_1109del6
1 paper
NM_016581.5
p.E335D
c.1005G>T
1 paper
NM_016581.5
p.E335D
c.1005G>C
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