Varaico: Literature-Extracted Genetic Variants

Gene:ISCU

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
1–12 of 60 variants
9 papers
NM_213595.4
p.G50E
c.149G>A
7 papers
NM_213595.4
p.A12V
c.35C>T
5 papers
NM_213595.4
p.G96V
c.287G>T
5 papers
NM_213595.4
p.M140Splc
c.418+382G>C
4 papers
NM_213595.4
p.F7V
c.19T>G
4 papers
NM_213595.4
p.F7C
c.20T>G
4 papers
NM_213595.4
p.M140I
c.420G>A
4 papers
NM_213595.4
p.M140I
c.420G>C
4 papers
NM_213595.4
p.M140I
c.420G>T
3 papers
NM_213595.4
p.D71A
c.212A>C
3 papers
NM_014301.4
p.M115Splc
c.343+382G>C
2 papers
NM_213595.4
p.M1I
c.3G>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."