Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF3
Variant:p.E23K

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.E23K
c.67G>A
Surrounding Variants
1 paper
NM_199069.2
p.W26Splc
c.77+1G>A
1 paper
NM_199069.2
p.L10L
c.28T>C
1 paper
NM_199069.2
p.A6V
c.17C>T
1 paper
NM_199069.2
p.A6P
c.16G>C
1 paper
NM_199069.2
p.A2D
c.5C>A
1 paper
NM_199069.2
p.A2V
c.5C>T
7 papers
NM_199069.2
p.M1T
c.2T>C
1 paper
NM_199069.2
p.M1R
c.2T>G
1 paper
NM_199069.2
p.M1insFs
c.2dupT
1 paper
NM_199069.2
p.M1L
c.1A>C
1 paper
NM_199069.2
p.M1V
c.1A>G
1 paper
NM_199069.2
p.M1L
c.1A>T
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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."