Varaico: Literature-Extracted Genetic Variants

Gene:IL1RAP
Variant:p.F50F

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
2 papers
NM_002182.4
p.F50F
c.150T>C
Surrounding Variants
1 paper
NM_002182.4
p.P48S
c.142C>T
1 paper
NM_002182.4
p.E41V
c.122A>T
1 paper
NM_002182.4
p.D40insFs
c.118_119insA
1 paper
NM_002182.4
p.R33_Q34del1
c.99_101delGCA
1 paper
NM_002182.4
p.D30A
c.89A>C
1 paper
NM_002182.4
p.L29fs
c.85_86fs
1 paper
NM_002182.4
p.R77Q
c.230G>A
1 paper
NM_002182.4
p.R77P
c.230G>C
1 paper
NM_002182.4
p.R23C
c.67C>T
1 paper
NM_002182.4
p.E80K
c.238G>A
1 paper
NM_002182.4
p.P82A
c.244C>G
2 papers
NM_002182.4
p.R86insFs
c.256dupC
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