Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF3

NDUFAF3

49 papers

RefSeq Summary

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the o...

Pfam Domains

DUF498aa 60–168UCSCProtein of unknown function (DUF498/DUF598)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 3

HGNC Previous Symbol

C3orf60

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
10 papers
NM_199069.2
p.R122P
c.365G>C
8 papers
NM_199069.2
p.G77R
c.229G>C
7 papers
NM_199069.2
p.M1T
c.2T>C
4 papers
NM_199069.2
p.T163_G164delFs
c.489_490delTG
3 papers
NM_199069.2
p.I114_V115ins1
c.342_343insGTG
3 papers
NM_199069.2
p.P169T
c.505C>A
2 papers
NM_199069.2
p.Y63*
c.189C>A
2 papers
NM_199069.2
p.Y63*
c.189C>G
2 papers
NM_199069.2
p.G164fs
c.490_491fs
2 papers
NM_199069.2
p.A165V
c.494C>T
1 paper
NM_199069.2
p.M1insFs
c.2dupT
1 paper
NM_199069.2
p.M1L
c.1A>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."