Varaico: Literature-Extracted Genetic Variants

Gene:IFI30
Variant:p.Y229*

IFI30

50 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gam...

Pfam Domains

GILTaa 63–166UCSCGamma interferon inducible lysosomal thiol reductase (GILT)

Gene Aliases

HGNC Name

IFI30 lysosomal thiol reductase

HGNC Alias Symbols

IFI-30; GILT; IP30; MGC32056; IP-30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006332.5
p.Y229*
c.687C>G
Surrounding Variants
5 papers
NM_006332.5
p.Y229*
c.687C>A
1 paper
NM_006332.5
p.T223A
c.667A>G
1 paper
NM_006332.5
p.Q230_G231Splc
c.691-17A>G
1 paper
NM_006332.5
p.P234A
c.700C>G
1 paper
NM_006332.5
p.V210I
c.628G>A
1 paper
NM_006332.5
p.H202Q
c.606C>A
1 paper
NM_006332.5
p.H202Q
c.606C>G
1 paper
NM_006332.5
p.P201P
c.603A>G
1 paper
NM_006332.5
p.P201L
c.602C>T
1 paper
NM_006332.5
p.M188I
c.564G>A
1 paper
NM_006332.5
p.M180V
c.538A>G
1 paper
NM_006332.5
p.P172P
c.516A>C
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