Varaico: Literature-Extracted Genetic Variants

Gene:COX17
Variant:p.C36S

COX17

35 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

COX17aa 18–40UCSCCytochrome C oxidase copper chaperone (COX17)
COX17aa 18–63UCSCCytochrome C oxidase copper chaperone (COX17)

Gene Aliases

HGNC Name

cytochrome c oxidase copper chaperone COX17

HGNC Previous Names

COX17 (yeast) homolog, cytochrome c oxidase assembly protein; COX17 cytochrome c oxidase assembly homolog (S. cerevisiae); COX17, cytochrome c oxidase copper chaperone

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005694.2
p.C36S
c.107G>C
Surrounding Variants
1 paper
NM_005694.2
p.C36C
c.108T>C
2 papers
NM_005694.2
p.C36S
c.106T>A
1 paper
NM_005694.2
p.I37I
c.111C>A
1 paper
NM_005694.2
p.G41*
c.121G>T
1 paper
NM_005694.2
p.A58P
c.172G>C
1 paper
NM_005694.2
p.D34V
c.101A>T
2 papers
NM_005694.2
p.A32A
c.96G>A
1 paper
NM_005694.2
p.A32T
c.94G>A
1 paper
NM_005694.2
p.K31K
c.93G>A
1 paper
NM_005694.2
p.C26S
c.77G>C
1 paper
NM_005694.2
p.C26R
c.76T>C
1 paper
NM_005694.2
p.C26S
c.76T>A
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