Varaico: Literature-Extracted Genetic Variants

Gene:IL1R1
Variant:p.L218L

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.L218L
c.652C>T
Surrounding Variants
1 paper
NM_000877.4
p.R211Q
c.632G>A
1 paper
NM_000877.4
p.K205K
c.615G>A
2 papers
NM_000877.4
p.L203F
c.609G>T
4 papers
NM_000877.4
p.Y202H
c.604T>C
1 paper
NM_000877.4
p.Y200H
c.598T>C
1 paper
NM_000877.4
p.A198T
c.592G>A
1 paper
NM_000877.4
p.G176A
c.527G>C
1 paper
NM_000877.4
p.L168fs
c.502_503fs
1 paper
NM_000877.4
p.K162_D163Splc
c.487-225A>G
1 paper
NM_000877.4
p.L158F
c.474A>C
1 paper
NM_000877.4
p.L158F
c.474A>T
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."