Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.W400*

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
3 papers
NM_078470.6
p.W400*
c.1200G>A
Surrounding Variants
3 papers
NM_078470.6
p.W400*
c.1199G>A
3 papers
NM_078470.6
p.W400_L401delFs
c.1200_1203del4
1 paper
NM_078470.6
p.R406Q
c.1217G>A
1 paper
NM_078470.6
p.S391P
c.1171T>C
5 papers
NM_078470.6
p.M377L
c.1129A>T
3 papers
NM_001320976.2
p.T195M
c.584C>T
NM_078470.6
p.T374M
c.1121C>T
1 paper
NM_078470.6
p.V368L
c.1102G>T
1 paper
NM_078470.6
p.Q367_V368Splc
c.1102-24A>G
3 papers
NM_004376.7
p.F374L
c.1120T>C
2 papers
NM_004376.7
p.F374L
c.1122T>G
2 papers
NM_004376.7
p.F374L
c.1122T>A
1 paper
NM_004376.7
p.K377*
c.1129A>T
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