Varaico: Literature-Extracted Genetic Variants

Gene:ISCU
Variant:p.M140I

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
4 papers
NM_213595.4
p.M140I
c.420G>A
Surrounding Variants
4 papers
NM_213595.4
p.M140I
c.420G>C
4 papers
NM_213595.4
p.M140I
c.420G>T
1 paper
NM_213595.4
p.M140L
c.418A>C
1 paper
NM_213595.4
p.M140V
c.418A>G
1 paper
NM_213595.4
p.M140L
c.418A>T
1 paper
NM_213595.4
p.P133P
c.399C>T
1 paper
NM_213595.4
p.P133T
c.397C>A
1 paper
NM_213595.4
p.P133delFs
c.399delC
1 paper
NM_213595.4
p.L129F
c.385C>T
1 paper
NM_213595.4
p.E128Q
c.382G>C
2 papers
NM_213595.4
p.A126T
c.376G>A
1 paper
NM_213595.4
p.D124A
c.371A>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."