Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF5

NDUFAF5

99 papers

RefSeq Summary

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The com...

Pfam Domains

Methyltransf_11aa 94–186UCSCMethyltransferase domain

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 5

HGNC Previous Symbol

C20orf7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
15 papers
NM_024120.5
p.G250V
c.749G>T
12 papers
NM_024120.5
p.L159F
c.477A>C
11 papers
NM_024120.5
p.L229P
c.686T>C
11 papers
NM_024120.5
p.M279R
c.836T>G
10 papers
NM_024120.5
p.L159F
c.477A>T
8 papers
NM_024120.5
p.K52T
c.155A>C
8 papers
NM_024120.5
p.K109N
c.327G>C
7 papers
NM_024120.5
p.E74_V75Splc
c.223-907A>C
5 papers
NM_024120.5
p.R49G
c.145C>G
5 papers
NM_024120.5
p.K109N
c.327G>T
4 papers
NM_024120.5
p.L274Q
c.821T>A
4 papers
NM_024120.5
p.R276Q
c.827G>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."