Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.F254L

NUBPL

120 papers

RefSeq Summary

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymat...

Pfam Domains

ParAaa 65–311UCSCNUBPL iron-transfer P-loop NTPase

Gene Aliases

HGNC Name

NUBP iron-sulfur cluster assembly factor, mitochondrial

HGNC Previous Symbol

C14orf127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025152.3
p.F254L
c.762T>G
Surrounding Variants
1 paper
NM_025152.3
p.F254L
c.762T>A
1 paper
NM_025152.3
p.F254L
c.760T>C
1 paper
NM_025152.3
p.D257H
c.769G>C
6 papers
NM_025152.3
p.F242L
c.726C>A
6 papers
NM_025152.3
p.F242L
c.726C>G
6 papers
NM_025152.3
p.F242L
c.724T>C
1 paper
NM_025152.3
p.M239L
c.715A>C
1 paper
NM_025152.3
p.M239L
c.715A>T
1 paper
NM_025152.3
p.V232A
c.695T>C
23 papers
NM_025152.3
p.G272Splc
c.815-27T>C
3 papers
NM_025152.3
p.D273fs
c.817_818fs
2 papers
NM_025152.3
p.G287C
c.859G>T
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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."