Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.H277Y

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.H277Y
c.829C>T
Surrounding Variants
9 papers
NM_152416.4
p.R274G
c.820A>G
3 papers
NM_152416.4
p.V280I
c.838G>A
1 paper
NM_152416.4
p.V280G
c.839T>G
1 paper
NM_152416.4
p.P281A
c.841C>G
1 paper
NM_152416.4
p.T291M
c.872C>T
11 papers
NM_152416.4
p.H269D
c.805C>G
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
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