Varaico: Literature-Extracted Genetic Variants

Gene:COX11
Variant:p.A244P

COX11

46 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

CtaG_Cox11aa 113–263UCSCCytochrome c oxidase assembly protein CtaG/Cox11

Gene Aliases

HGNC Name

cytochrome c oxidase copper chaperone COX11

HGNC Previous Names

COX11 (yeast) homolog, cytochrome c oxidase assembly protein; cytochrome c oxidase assembly homolog 11 (yeast); COX11, cytochrome c oxidase copper chaperone

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004375.5
p.A244P
c.730G>C
Surrounding Variants
2 papers
NM_004375.5
p.P247T
c.739C>A
1 paper
NM_004375.5
p.M233T
c.698T>C
3 papers
NM_004375.5
p.T256fs
c.766_767fs
1 paper
NM_004375.5
p.T256insFs
c.766dupA
1 paper
NM_004375.5
p.L225V
c.673C>G
1 paper
NM_004375.5
p.Q216_C217Splc
c.648+4C>G
1 paper
NM_004375.5
p.F206L
c.618T>G
1 paper
NM_004375.5
p.F206L
c.618T>A
1 paper
NM_004375.5
p.F206L
c.616T>C
1 paper
NM_004375.5
p.T200K
c.599C>A
1 paper
NM_004375.5
p.S199fs
c.595_596fs
1 paper
NM_004375.5
p.S199delFs
c.595delA
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