Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.Y73fs

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.Y73fs
c.217_218fs
Surrounding Variants
2 papers
NM_152416.4
p.C75_L77del0
c.223_231del9
1 paper
NM_152416.4
p.L78_A81delFs
c.233_242del10
1 paper
NM_152416.4
p.Y70C
c.209A>G
8 papers
NM_152416.4
p.S76P
c.226T>C
7 papers
NM_152416.4
p.D69V
c.206A>T
1 paper
NM_152416.4
p.R68W
c.202C>T
1 paper
NM_152416.4
p.L79P
c.236T>C
1 paper
NM_152416.4
p.R66Splc
c.198-2A>G
1 paper
NM_152416.4
p.P80L
c.239C>T
2 papers
NM_152416.4
p.R84*
c.250C>T
1 paper
NM_152416.4
p.S86F
c.257C>T
2 papers
NM_152416.4
p.A89T
c.265G>A
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