Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.G189delFs

COX15

144 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex ...

Pfam Domains

COX15-CtaAaa 70–399UCSCCytochrome oxidase assembly protein

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor COX15

HGNC Alias Symbol

CEMCOX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_078470.6
p.G189delFs
c.566delC
Surrounding Variants
3 papers
NM_078470.6
p.C188_G189delFs
c.564_565delCA
1 paper
NM_078470.6
p.V191insFs
c.572_573ins4
4 papers
NM_078470.6
p.C188fs
c.562_563fs
1 paper
NM_078470.6
p.C192Y
c.575G>A
1 paper
NM_078470.6
p.R178C
c.532C>T
3 papers
NM_078470.6
p.G174S
c.520G>A
3 papers
NM_078470.6
p.Y169*
c.507C>G
3 papers
NM_078470.6
p.Y169*
c.507C>A
1 paper
NM_078470.6
p.A168G
c.503C>G
1 paper
NM_078470.6
p.I164M
c.492C>G
1 paper
NM_078470.6
p.G160G
c.480C>T
1 paper
NM_078470.6
p.G160S
c.478G>A
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