Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF3
Variant:p.F153L

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
Selected Variant
1 paper
NM_199069.2
p.F153L
c.459C>A
Surrounding Variants
1 paper
NM_199069.2
p.F153L
c.459C>G
1 paper
NM_199069.2
p.F153L
c.457T>C
1 paper
NM_199069.2
p.N154N
c.462C>T
1 paper
NM_199069.2
p.H158insFs
c.472_473insC
1 paper
NM_199069.2
p.R161G
c.481C>G
4 papers
NM_199069.2
p.T163_G164delFs
c.489_490delTG
2 papers
NM_199069.2
p.G164fs
c.490_491fs
1 paper
NM_199069.2
p.G164fs
c.490_491fs
2 papers
NM_199069.2
p.A165V
c.494C>T
3 papers
NM_199069.2
p.P169T
c.505C>A
1 paper
NM_199069.2
p.Q181H
c.543A>C
1 paper
NM_199069.2
p.Q181H
c.543A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."