Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.H269D

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
11 papers
NM_152416.4
p.H269D
c.805C>G
Surrounding Variants
2 papers
NM_152416.4
p.H269Y
c.805C>T
1 paper
NM_152416.4
p.K253R
c.758A>G
2 papers
NM_152416.4
p.R248W
c.742C>T
1 paper
NM_152416.4
p.E244A
c.731A>C
1 paper
NM_152416.4
p.M237K
c.710T>A
1 paper
NM_152416.4
p.P232L
c.695C>T
1 paper
NM_152416.4
p.P232T
c.694C>A
1 paper
NM_152416.4
p.S225N
c.674G>A
1 paper
NM_152416.4
p.H223_L231del9
c.667_692del27
1 paper
NM_152416.4
p.P221P
c.663A>G
1 paper
NM_152416.4
p.T220K
c.659C>A
1 paper
NM_152416.4
p.C216G
c.646T>G
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