Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.V86A

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
3 papers
NM_025152.3
p.V86A
c.257T>C
Surrounding Variants
1 paper
NM_025152.3
p.S82fs
c.244_245fs
1 paper
NM_025152.3
p.G80insFs
c.240dupA
1 paper
NM_025152.3
p.A73D
c.218C>A
1 paper
NM_025152.3
p.A73_S74delFs
c.219_222del4
3 papers
NM_025152.3
p.V69fs
c.205_206fs
3 papers
NM_025152.3
p.V69delFs
c.205_206delGT
1 paper
NM_025152.3
p.G65A
c.194G>C
1 paper
NM_025152.3
p.I63T
c.188T>C
1 paper
NM_025152.3
p.K59R
c.176A>G
1 paper
NM_025152.3
p.P58A
c.172C>G
26 papers
NM_025152.3
p.G56R
c.166G>A
21 papers
NM_025152.3
p.G56R
c.166G>C
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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."