Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.Q397L

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
2 papers
NM_152501.5
p.Q397L
c.1190A>T
Surrounding Variants
1 paper
NM_152501.5
p.L388L
c.1162C>T
1 paper
NM_152501.5
p.R378*
c.1132C>T
6 papers
NM_152501.5
p.R373*
c.1117C>T
1 paper
NM_152501.5
p.Q347K
c.1039C>A
1 paper
NM_152501.5
p.T341T
c.1023G>A
1 paper
NM_152501.5
p.R405K
c.1214G>A
1 paper
NM_152501.5
p.S406R
c.1216A>C
1 paper
NM_152501.5
p.S406R
c.1218C>A
1 paper
NM_152501.5
p.S406R
c.1218C>G
1 paper
NM_152501.5
p.L414P
c.1241T>C
1 paper
NM_152501.5
p.Q420R
c.1259A>G
1 paper
NM_152501.5
p.E426Q
c.1276G>C
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