Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.S219G

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
4 papers
NM_078470.6
p.S219G
c.655A>G
Surrounding Variants
20 papers
NM_078470.6
p.R217W
c.649C>T
1 paper
NM_078470.6
p.P216L
c.647C>T
7 papers
NM_078470.6
p.R222C
c.664C>T
1 paper
NM_078470.6
p.L223L
c.669T>C
1 paper
NM_078470.6
p.A225A
c.675C>A
1 paper
NM_078470.6
p.L233F
c.697C>T
1 paper
NM_078470.6
p.A236V
c.707C>T
1 paper
NM_078470.6
p.G198delFs
c.592delC
1 paper
NM_078470.6
p.L196V
c.586C>G
1 paper
NM_078470.6
p.S243*
c.728C>G
1 paper
NM_078470.6
p.S243*
c.728C>A
1 paper
NM_078470.6
p.P247T
c.739C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."