Varaico: Literature-Extracted Genetic Variants

Gene:IFI30
Variant:p.G46_R51del0

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
1 paper
NM_006332.5
p.G46_R51del0
c.138_152del15
Surrounding Variants
2 papers
NM_006332.5
p.P60L
c.179C>T
2 papers
NM_006332.5
p.C75S
c.223T>A
1 paper
NM_006332.5
p.C75S
c.224G>C
1 paper
NM_006332.5
p.R76*
c.226C>T
6 papers
NM_006332.5
p.R76Q
c.227G>A
1 paper
NM_006332.5
p.V99A
c.296T>C
1 paper
NM_006332.5
p.P100R
c.299C>G
1 paper
NM_006332.5
p.G102R
c.304G>A
1 paper
NM_006332.5
p.G102R
c.304G>C
1 paper
NM_006332.5
p.E114G
c.341A>G
1 paper
NM_006332.5
p.C124*
c.372C>A
1 paper
NM_006332.5
p.E130_A131Splc
c.390+49G>C
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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."