Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.L29delFs

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.L29delFs
c.85delC
Surrounding Variants
1 paper
NM_152501.5
p.M39K
c.116T>A
1 paper
NM_152501.5
p.K12T
c.35A>C
1 paper
NM_152501.5
p.D50N
c.148G>A
1 paper
NM_152501.5
p.Y5_K6insG
c.13_17ins3
1 paper
NM_152501.5
p.E53K
c.157G>A
1 paper
NM_152501.5
p.E54G
c.161A>G
1 paper
NM_152501.5
p.M1V
c.1A>G
1 paper
NM_152501.5
p.G61S
c.181G>A
1 paper
NM_152501.5
p.I72L
c.214A>C
1 paper
NM_152501.5
p.I72L
c.214A>T
1 paper
NM_152501.5
p.T81S
c.242C>G
1 paper
NM_152501.5
p.L82P
c.245T>C
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