Varaico: Literature-Extracted Genetic Variants

Gene:IFI16
Variant:p.E222Q

IFI16

127 papers

RefSeq Summary

This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA bi...

Pfam Domains

PYRINaa 8–80UCSCPAAD/DAPIN/Pyrin domain
HINaa 201–369UCSCHIN-200/IF120x domain
HINaa 574–740UCSCHIN-200/IF120x domain

Gene Aliases

HGNC Name

interferon gamma inducible protein 16

HGNC Alias Symbols

IFNGIP1; PYHIN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001376587.1
p.E222Q
c.664G>C
Surrounding Variants
1 paper
NM_001376587.1
p.E222A
c.665A>C
1 paper
NM_001376587.1
p.T220A
c.658A>G
1 paper
NM_001376587.1
p.I227insFs
c.679dupA
1 paper
NM_001376587.1
p.T212R
c.635C>G
1 paper
NM_001376587.1
p.T235K
c.704C>A
1 paper
NM_001376587.1
p.F239L
c.715T>C
1 paper
NM_001376587.1
p.P204Q
c.611C>A
1 paper
NM_001376587.1
p.F239L
c.717C>A
1 paper
NM_001376587.1
p.F239L
c.717C>G
1 paper
NM_001376587.1
p.V199delFs
c.596_597delTT
1 paper
NM_001376587.1
p.N198H
c.592A>C
1 paper
NM_001376587.1
p.E266A
c.797A>C
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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."