Varaico: Literature-Extracted Genetic Variants

Gene:IL1R1
Variant:p.V134A

IL1R1

225 papers

RefSeq Summary

This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antag...

Pfam Domains

Ig_6aa 18–126UCSCImmunoglobulin domain
Ig_6aa 18–126UCSCImmunoglobulin domain
Ig_6aa 18–126UCSCImmunoglobulin domain
Ig_2aa 123–213UCSCImmunoglobulin domain
Ig_2aa 123–213UCSCImmunoglobulin domain
Ig_2aa 123–213UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

interleukin 1 receptor type 1

HGNC Previous Symbol

IL1RA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000877.4
p.V134A
c.401T>C
Surrounding Variants
1 paper
NM_000877.4
p.L132L
c.394C>T
1 paper
NM_000877.4
p.K131R
c.392A>G
2 papers
NM_000877.4
p.K131E
c.391A>G
1 paper
NM_000877.4
p.G138R
c.412G>C
1 paper
NM_000877.4
p.G139*
c.415G>T
1 paper
NM_000877.4
p.K129insFs
c.386dupA
1 paper
NM_000877.4
p.V141L
c.421G>C
4 papers
NM_000877.4
p.Q125K
c.373C>A
10 papers
NM_000877.4
p.A124G
c.371C>G
1 paper
NM_000877.4
p.E117E
c.351G>A
1 paper
NM_000877.4
p.L155insFs
c.464_465insT
1 paper
NM_000877.4
p.L158_Y161del0
c.472_483del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."