Varaico: Literature-Extracted Genetic Variants

Gene:PYHIN1
Variant:p.R469G

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.R469G
c.1405A>G
Surrounding Variants
1 paper
NM_152501.5
p.R469K
c.1406G>A
1 paper
NM_152501.5
p.T471_S472insA
c.1411_1415ins3
1 paper
NM_152501.5
p.P465L
c.1394C>T
1 paper
NM_152501.5
p.S464L
c.1391C>T
1 paper
NM_152501.5
p.V475L
c.1423G>C
1 paper
NM_152501.5
p.V475L
c.1423G>T
1 paper
NM_152501.5
p.H458Q
c.1374C>A
1 paper
NM_152501.5
p.H458Q
c.1374C>G
1 paper
NM_152501.5
p.T485S
c.1453A>T
1 paper
NM_152501.5
p.T485S
c.1454C>G
1 paper
NM_152501.5
p.N486S
c.1457A>G
1 paper
NM_152501.5
p.R487H
c.1460G>A
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