Varaico: Literature-Extracted Genetic Variants

Gene:ISCU
Variant:p.G94V

ISCU

89 papers

RefSeq Summary

This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabo...

Pfam Domains

NifU_Naa 34–146UCSCNifU-like N terminal domain

Gene Aliases

HGNC Name

iron-sulfur cluster assembly enzyme

HGNC Previous Symbol

NIFUN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213595.4
p.G94V
c.281G>T
Surrounding Variants
5 papers
NM_213595.4
p.G96V
c.287G>T
1 paper
NM_213595.4
p.I99T
c.296T>C
1 paper
NM_213595.4
p.A105G
c.314C>G
1 paper
NM_213595.4
p.T113del1
c.337_338delACG
1 paper
NM_213595.4
p.T113delFs
c.338_339delCG
1 paper
NM_213595.4
p.V72A
c.215T>C
3 papers
NM_213595.4
p.D71A
c.212A>C
1 paper
NM_213595.4
p.D71V
c.212A>T
1 paper
NM_213595.4
p.C69S
c.206G>C
1 paper
NM_213595.4
p.C69S
c.205T>A
1 paper
NM_213595.4
p.T55I
c.164C>T
9 papers
NM_213595.4
p.G50E
c.149G>A
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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."