Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.A199insFs

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.A199insFs
c.595_596insCT
Surrounding Variants
1 paper
NM_152501.5
p.A199V
c.596C>T
1 paper
NM_152501.5
p.N200D
c.598A>G
1 paper
NM_152501.5
p.P197R
c.590C>G
1 paper
NM_152501.5
p.R201H
c.602G>A
2 papers
NM_152501.5
p.H202Y
c.604C>T
1 paper
NM_152501.5
p.A205T
c.613G>A
1 paper
NM_152501.5
p.I209V
c.625A>G
1 paper
NM_152501.5
p.I209N
c.626T>A
2 papers
NM_152501.5
p.R211*
c.631C>T
1 paper
NM_152501.5
p.A217A
c.651G>A
1 paper
NM_152501.5
p.K224N
c.672A>C
1 paper
NM_152501.5
p.K224N
c.672A>T
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