Varaico: Literature-Extracted Genetic Variants

Gene:IFI30
Variant:p.D18delFs

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
2 papers
NM_006332.5
p.D18delFs
c.52delG
Surrounding Variants
1 paper
NM_006332.5
p.L17fs
c.49_50fs
1 paper
NM_006332.5
p.L15L
c.43C>T
1 paper
NM_006332.5
p.L17del1
c.49_50delCTG
1 paper
NM_006332.5
p.P12_L13del2
c.34_38del6
1 paper
NM_006332.5
p.S4S
c.12G>C
1 paper
NM_006332.5
p.Q30R
c.89A>G
1 paper
NM_006332.5
p.S4_P5delFs
c.12_13delGC
1 paper
NM_006332.5
p.F35_P40del0
c.105_119del15
1 paper
NM_006332.5
p.G36del1
c.106_108delGGG
1 paper
NM_006332.5
p.P39_V41delins
c.116_122delinsC
1 paper
NM_006332.5
p.N42I
c.125A>T
1 paper
NM_006332.5
p.Y43_K44del1
c.129_131delCAA
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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."