Varaico: Literature-Extracted Genetic Variants

Gene:NUBP2

NUBP2

40 papers

RefSeq Summary

This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with...

Pfam Domains

ParAaa 1–203UCSCNUBPL iron-transfer P-loop NTPase
ParAaa 2–122UCSCNUBPL iron-transfer P-loop NTPase

Gene Aliases

HGNC Name

NUBP iron-sulfur cluster assembly factor 2, cytosolic

HGNC Alias Symbols

CFD1; CIAO6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
2 papers
NM_012225.4
p.M1L
c.1A>T
2 papers
NM_012225.4
p.H41D
c.121C>G
2 papers
NM_012225.4
p.A112T
c.334G>A
2 papers
NM_012225.4
p.A164G
c.491C>G
1 paper
NM_012225.4
p.M1L
c.1A>C
1 paper
NM_012225.4
p.M1I
c.3G>A
1 paper
NM_012225.4
p.M1I
c.3G>C
1 paper
NM_012225.4
p.M1I
c.3G>T
1 paper
NM_012225.4
p.E6Splc
c.16+471G>A
1 paper
NM_012225.4
p.E6Splc
c.17-2A>G
1 paper
NM_012225.4
p.N9K
c.27C>G
1 paper
NM_012225.4
p.V13I
c.37G>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."