Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.L104P

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
13 papers
NM_025152.3
p.L104P
c.311T>C
Surrounding Variants
8 papers
NM_025152.3
p.D105Y
c.313G>T
1 paper
NM_025152.3
p.A100T
c.298G>A
1 paper
NM_025152.3
p.K115N
c.345G>C
1 paper
NM_025152.3
p.K115N
c.345G>T
3 papers
NM_025152.3
p.M117I
c.351G>A
3 papers
NM_025152.3
p.M117I
c.351G>C
3 papers
NM_025152.3
p.M117I
c.351G>T
1 paper
NM_025152.3
p.S128N
c.383G>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."