Varaico: Literature-Extracted Genetic Variants

Gene:IL18
Variant:p.K44E

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.K44E
c.130A>G
Surrounding Variants
3 papers
NM_001562.4
p.K44K
c.132A>G
2 papers
NM_001562.4
p.L45V
c.133T>G
2 papers
NM_001562.4
p.S43P
c.127T>C
2 papers
NM_001562.4
p.E42E
c.126A>G
1 paper
NM_001562.4
p.E42*
c.124G>T
1 paper
NM_001562.4
p.E42K
c.124G>A
54 papers
NM_001562.4
p.S46*
c.137C>G
1 paper
NM_001562.4
p.L41P
c.122T>C
1 paper
NM_001562.4
p.K40insFs
c.118_119insA
4 papers
NM_001562.4
p.K40T
c.119A>C
1 paper
NM_001562.4
p.G39A
c.116G>C
1 paper
NM_001562.4
p.R49fs
c.145_146fs
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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."