Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1

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
1–12 of 101 variants
6 papers
NM_152501.5
p.R373*
c.1117C>T
3 papers
NM_152501.5
p.S176C
c.527C>G
2 papers
NM_152501.5
p.S164Y
c.491C>A
2 papers
NM_152501.5
p.H202Y
c.604C>T
2 papers
NM_152501.5
p.R211*
c.631C>T
2 papers
NM_152501.5
p.Q397L
c.1190A>T
2 papers
NM_152501.5
p.R469G
c.1405A>G
1 paper
NM_152501.5
p.M1V
c.1A>G
1 paper
NM_152501.5
p.Y5_K6insG
c.13_17ins3
1 paper
NM_152501.5
p.K12T
c.35A>C
1 paper
NM_152501.5
p.L29delFs
c.85delC
1 paper
NM_152501.5
p.M39K
c.116T>A
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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."