Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.E160K

NDUFAF6

111 papers

RefSeq Summary

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone ...

Pfam Domains

SQS_PSYaa 5–230UCSCSqualene/phytoene synthase

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 6

HGNC Previous Symbol

C8orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152416.4
p.E160K
c.478G>A
Surrounding Variants
1 paper
NM_152416.4
p.N162insFs
c.485dupA
1 paper
NM_152416.4
p.E160delFs
c.479delA
1 paper
NM_152416.4
p.K161Q
c.481A>C
1 paper
NM_152416.4
p.N162fs
c.484_485fs
1 paper
NM_152416.4
p.N162fs
c.484_485fs
1 paper
NM_152416.4
p.R169C
c.505C>T
1 paper
NM_152416.4
p.R169L
c.506G>T
8 papers
NM_152416.4
p.A178P
c.532G>C
2 papers
NM_152416.4
p.E179G
c.536A>G
1 paper
NM_152416.4
p.T181I
c.542C>T
5 papers
NM_152416.4
p.L185_L186delFs
c.554_558del5
1 paper
NM_152416.4
p.L185H
c.554T>A
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