Varaico: Literature-Extracted Genetic Variants

Gene:COX11
Variant:p.R6G

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
1 paper
NM_004375.5
p.R6G
c.16C>G
Surrounding Variants
2 papers
NM_004375.5
p.V12fs
c.34_35fs
1 paper
NM_004375.5
p.V12G
c.35T>G
2 papers
NM_004375.5
p.V12Fs
c.35_36delinsGFs
1 paper
NM_004375.5
p.G23G
c.69G>C
1 paper
NM_004375.5
p.E39Q
c.115G>C
1 paper
NM_004375.5
p.S41C
c.121A>T
1 paper
NM_004375.5
p.T43K
c.128C>A
1 paper
NM_004375.5
p.R58C
c.172C>T
1 paper
NM_004375.5
p.R58H
c.173G>A
1 paper
NM_004375.5
p.P70T
c.208C>A
1 paper
NM_004375.5
p.R88W
c.262C>T
1 paper
NM_004375.5
p.V104V
c.312G>T
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