Varaico: Literature-Extracted Genetic Variants

Gene:IL18
Variant:p.D53V

IL18

469 papers

RefSeq Summary

The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and kerat...

Pfam Domains

IL1aa 72–185UCSCInterleukin-1 / 18

Gene Aliases

HGNC Name

interleukin 18

HGNC Alias Symbols

IGIF; IL1F4; IL-1g; IL-18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001562.4
p.D53V
c.158A>T
Surrounding Variants
2 papers
NM_001562.4
p.D53D
c.159C>T
1 paper
NM_001562.4
p.N52N
c.156T>C
2 papers
NM_001562.4
p.Q54R
c.161A>G
1 paper
NM_001562.4
p.Q54H
c.162A>T
1 paper
NM_001562.4
p.V55I
c.163G>A
1 paper
NM_001562.4
p.L56F
c.166C>T
1 paper
NM_001562.4
p.F57Y
c.170T>A
1 paper
NM_001562.4
p.R49fs
c.145_146fs
54 papers
NM_001562.4
p.S46*
c.137C>G
2 papers
NM_001562.4
p.L45V
c.133T>G
11 papers
NM_001562.4
p.G61G
c.183A>G
3 papers
NM_001562.4
p.K44K
c.132A>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."