Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAP
Variant:p.F272L

IL1RAP

92 papers

RefSeq Summary

This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gen...

Pfam Domains

Ig_6aa 55–144UCSCImmunoglobulin domain
TIRaa 404–570UCSCTIR domain
TIRaa 404–570UCSCTIR domain

Gene Aliases

HGNC Name

interleukin 1 receptor accessory protein

HGNC Alias Symbols

IL-1RAcP; IL1R3; C3orf13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002182.4
p.F272L
c.816T>A
Surrounding Variants
1 paper
NM_002182.4
p.F272L
c.816T>G
1 paper
NM_002182.4
p.F272L
c.814T>C
1 paper
NM_002182.4
p.R277C
c.829C>T
1 paper
NM_002182.4
p.R277H
c.830G>A
1 paper
NM_002182.4
p.T267M
c.800C>T
1 paper
NM_002182.4
p.E261K
c.781G>A
1 paper
NM_002182.4
p.G286G
c.858A>G
1 paper
NM_002182.4
p.K288E
c.862A>G
1 paper
NM_002182.4
p.I292F
c.874A>T
1 paper
NM_002182.4
p.T293N
c.878C>A
1 paper
NM_002182.4
p.I294S
c.881T>G
1 paper
NM_002182.4
p.V296I
c.886G>A
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