Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.Q99_V100Splc

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.Q99_V100Splc
c.298-731A>G
Surrounding Variants
3 papers
NM_152416.4
p.Q99_V100Splc
c.298-768T>C
1 paper
NM_152416.4
p.V100fs
c.298_299fs
1 paper
NM_152416.4
p.K101fs
c.301_302fs
1 paper
NM_152416.4
p.K107Q
c.319A>C
1 paper
NM_152416.4
p.I109T
c.326T>C
7 papers
NM_152416.4
p.R113*
c.337C>T
1 paper
NM_152416.4
p.K119_T120delFs
c.356_359del4
1 paper
NM_152416.4
p.V121_D123delFs
c.361_368del8
12 papers
NM_152416.4
p.I124T
c.371T>C
1 paper
NM_152416.4
p.D127N
c.379G>A
1 paper
NM_152416.4
p.D127A
c.380A>C
1 paper
NM_152416.4
p.N128S
c.383A>G
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