Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.I132Splc

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.I132Splc
c.396-5C>G
Surrounding Variants
6 papers
NM_078470.6
p.I132Splc
c.396-3C>G
4 papers
NM_078470.6
p.L139V
c.415C>G
11 papers
NM_078470.6
p.S151*
c.452C>G
10 papers
NM_078470.6
p.S151*
c.452C>A
1 paper
NM_078470.6
p.W155R
c.463T>C
1 paper
NM_078470.6
p.W155R
c.463T>A
1 paper
NM_078470.6
p.R157C
c.469C>T
1 paper
NM_078470.6
p.L158I
c.472C>A
1 paper
NM_078470.6
p.L158insFs
c.472_473insC
1 paper
NM_078470.6
p.G160S
c.478G>A
1 paper
NM_078470.6
p.G160G
c.480C>T
1 paper
NM_078470.6
p.I164M
c.492C>G
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