Varaico: Literature-Extracted Genetic Variants

Gene:IL18R1
Variant:p.L404L

IL18R1

64 papers

RefSeq Summary

The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated si...

Pfam Domains

TIRaa 375–540UCSCTIR domain

Gene Aliases

HGNC Name

interleukin 18 receptor 1

HGNC Alias Symbols

IL1RRP; IL-1Rrp; CD218a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003855.5
p.L404L
c.1212G>A
Surrounding Variants
1 paper
NM_003855.5
p.G423R
c.1267G>A
1 paper
NM_003855.5
p.G423R
c.1267G>C
2 papers
NM_003855.5
p.R386*
c.1156C>T
1 paper
NM_003855.5
p.Y381C
c.1142A>G
1 paper
NM_003855.5
p.S431L
c.1292C>T
1 paper
NM_003855.5
p.R437*
c.1309C>T
1 paper
NM_003855.5
p.L443V
c.1327C>G
1 paper
NM_003855.5
p.I472_T483del12
c.1414_1448del36
1 paper
NM_003855.5
p.Q487H
c.1461A>C
1 paper
NM_003855.5
p.Q487H
c.1461A>T
1 paper
NM_003855.5
p.M520L
c.1558A>C
1 paper
NM_003855.5
p.M520L
c.1558A>T
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