Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF3
Variant:p.P78_C79del1

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.P78_C79del1
c.233_235delCCT
Surrounding Variants
8 papers
NM_199069.2
p.G77R
c.229G>C
1 paper
NM_199069.2
p.R74S
c.220C>A
1 paper
NM_199069.2
p.Q88E
c.262C>G
2 papers
NM_199069.2
p.Y63*
c.189C>A
2 papers
NM_199069.2
p.Y63*
c.189C>G
1 paper
NM_199069.2
p.Y63insFs
c.188dupA
1 paper
NM_199069.2
p.M58T
c.173T>C
1 paper
NM_199069.2
p.A37A
c.111G>T
1 paper
NM_199069.2
p.R33W
c.97C>T
1 paper
NM_199069.2
p.H32R
c.95A>G
1 paper
NM_199069.2
p.G31R
c.91G>A
1 paper
NM_199069.2
p.G31R
c.91G>C
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