Varaico: Literature-Extracted Genetic Variants

Gene:IL1R1
Variant:p.E28V

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.E28V
c.83A>T
Surrounding Variants
1 paper
NM_000877.4
p.E28D
c.84A>C
2 papers
NM_000877.4
p.E28D
c.84A>T
1 paper
NM_000877.4
p.K29T
c.86A>C
1 paper
NM_000877.4
p.K24Q
c.70A>C
1 paper
NM_000877.4
p.A36V
c.107C>T
1 paper
NM_000877.4
p.E38K
c.112G>A
1 paper
NM_000877.4
p.E38A
c.113A>C
1 paper
NM_000877.4
p.N47S
c.140A>G
2 papers
NM_000877.4
p.P48S
c.142C>T
1 paper
NM_000877.4
p.K52*
c.154A>T
1 paper
NM_000877.4
p.T54I
c.161C>T
1 paper
NM_000877.4
p.I55V
c.163A>G
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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."