Varaico: Literature-Extracted Genetic Variants

Gene:NUBP2
Variant:p.S57R

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.S57R
c.171T>G
Surrounding Variants
1 paper
NM_012225.4
p.S57R
c.171T>A
1 paper
NM_012225.4
p.I58fs
c.172_173fs
1 paper
NM_012225.4
p.S57R
c.169A>C
1 paper
NM_012225.4
p.I58insFs
c.173_174insA
1 paper
NM_012225.4
p.M61R
c.182T>G
1 paper
NM_012225.4
p.Q85*
c.253C>T
1 paper
NM_012225.4
p.L95M
c.283C>A
1 paper
NM_012225.4
p.L96M
c.286C>A
1 paper
NM_012225.4
p.P99_D100ins4
c.295_299ins12
1 paper
NM_012225.4
p.P99L
c.296C>T
2 papers
NM_012225.4
p.H41D
c.121C>G
1 paper
NM_012225.4
p.R40C
c.118C>T
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