Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAP
Variant:p.L500S

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.L500S
c.1499T>C
Surrounding Variants
1 paper
NM_002182.4
p.I499L
c.1495A>C
1 paper
NM_002182.4
p.A491V
c.1472C>T
1 paper
NM_002182.4
p.R516K
c.1547G>A
1 paper
NM_002182.4
p.K525R
c.1574A>G
1 paper
NM_002182.4
p.Y472Y
c.1416C>T
1 paper
NM_002182.4
p.E529D
c.1587A>C
1 paper
NM_002182.4
p.E529D
c.1587A>T
1 paper
NM_002182.4
p.S469S
c.1407C>T
1 paper
NM_002182.4
p.P534A
c.1600C>G
1 paper
NM_002182.4
p.R537R
c.1611G>A
1 paper
NM_002182.4
p.L455L
c.1363T>C
1 paper
NM_002182.4
p.P446A
c.1336C>G
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