Varaico: Literature-Extracted Genetic Variants

Gene:NUBP2
Variant:p.A164G

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
2 papers
NM_012225.4
p.A164G
c.491C>G
Surrounding Variants
1 paper
NM_012225.4
p.A164A
c.492G>A
1 paper
NM_012225.4
p.V165L
c.493G>C
1 paper
NM_012225.4
p.R172H
c.515G>A
1 paper
NM_012225.4
p.E173_L174insA
c.517_521ins3
1 paper
NM_012225.4
p.E173G
c.518A>G
1 paper
NM_012225.4
p.L182F
c.546G>C
1 paper
NM_012225.4
p.L182F
c.546G>T
1 paper
NM_012225.4
p.C199W
c.597C>G
1 paper
NM_012225.4
p.Q163_A164Splc
c.489+5C>T
1 paper
NM_012225.4
p.T200M
c.599C>T
1 paper
NM_012225.4
p.P150P
c.450C>G
1 paper
NM_012225.4
p.R149H
c.446G>A
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