Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.R306*

PYHIN1

85 papers

RefSeq Summary

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear an...

Pfam Domains

PYRINaa 8–80UCSCPAAD/DAPIN/Pyrin domain
HINaa 211–379UCSCHIN-200/IF120x domain

Gene Aliases

HGNC Name

pyrin and HIN domain family member 1

HGNC Alias Symbols

IFIX; MGC23885

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152501.5
p.R306*
c.916A>T
Surrounding Variants
1 paper
NM_152501.5
p.K309T
c.926A>C
1 paper
NM_152501.5
p.K309M
c.926A>T
1 paper
NM_152501.5
p.K309K
c.927G>A
1 paper
NM_152501.5
p.V300I
c.898G>A
1 paper
NM_152501.5
p.G323E
c.968G>A
1 paper
NM_152501.5
p.K276E
c.826A>G
1 paper
NM_152501.5
p.R267S
c.801A>C
1 paper
NM_152501.5
p.R267S
c.801A>T
1 paper
NM_152501.5
p.R267G
c.799A>G
1 paper
NM_152501.5
p.K253Q
c.757A>C
1 paper
NM_152501.5
p.E234K
c.700G>A
1 paper
NM_152501.5
p.V225I
c.673G>A
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