Varaico: Literature-Extracted Genetic Variants

Gene:IFI16
Variant:p.E80A

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.E80A
c.239A>C
Surrounding Variants
1 paper
NM_001376587.1
p.D77N
c.229G>A
1 paper
NM_001376587.1
p.E85fs
c.253_254fs
1 paper
NM_001376587.1
p.E70K
c.208G>A
1 paper
NM_001376587.1
p.R57*
c.169C>T
1 paper
NM_001376587.1
p.D50N
c.148G>A
1 paper
NM_001376587.1
p.D44E
c.132C>A
1 paper
NM_001376587.1
p.D44E
c.132C>G
1 paper
NM_001376587.1
p.D44A
c.131A>C
1 paper
NM_001376587.1
p.E42*
c.124G>T
1 paper
NM_001376587.1
p.M39K
c.116T>A
1 paper
NM_001376587.1
p.K38E
c.112A>G
1 paper
NM_001376587.1
p.L35P
c.104T>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."