Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.Y124*

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.Y124*
c.372C>G
Surrounding Variants
4 papers
NM_078470.6
p.Y124*
c.372C>A
1 paper
NM_078470.6
p.R123T
c.368G>C
1 paper
NM_078470.6
p.P128L
c.383C>T
1 paper
NM_078470.6
p.E120D
c.360A>T
1 paper
NM_078470.6
p.E120D
c.360A>C
1 paper
NM_078470.6
p.E107_P111delins
c.321_331delinsAT
1 paper
NM_078470.6
p.D101E
c.303T>G
1 paper
NM_078470.6
p.D101E
c.303T>A
3 papers
NM_078470.6
p.S98L
c.293C>T
1 paper
NM_078470.6
p.S95Y
c.284C>A
1 paper
NM_078470.6
p.S95T
c.283T>A
1 paper
NM_078470.6
p.I132Splc
c.396-5C>G
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