Varaico: Literature-Extracted Genetic Variants

Gene:NUBP2
Variant:p.M1I

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
Selected Variant
1 paper
NM_012225.4
p.M1I
c.3G>T
Surrounding Variants
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.M1L
c.1A>C
2 papers
NM_012225.4
p.M1L
c.1A>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
1 paper
NM_012225.4
p.K23K
c.69G>A
1 paper
NM_012225.4
p.T33_E34insFs
c.99_100ins4
1 paper
NM_012225.4
p.E34insFs
c.100_101ins4
1 paper
NM_012225.4
p.R40C
c.118C>T
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