Varaico: Literature-Extracted Genetic Variants

Gene:COX17

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
1–12 of 29 variants
3 papers
NM_005694.2
p.C24S
c.70T>A
3 papers
NM_005694.2
p.C24S
c.71G>C
2 papers
NM_005694.2
p.C23S
c.67T>A
2 papers
NM_005694.2
p.C23S
c.68G>C
2 papers
NM_005694.2
p.A32A
c.96G>A
2 papers
NM_005694.2
p.C36S
c.106T>A
2 papers
NM_005694.2
p.C36S
c.107G>C
1 paper
NM_005694.2
p.P2L
c.5C>T
1 paper
NM_005694.2
p.G3G
c.9T>G
1 paper
NM_005694.2
p.S7*
c.20C>G
1 paper
NM_005694.2
p.S7*
c.20C>A
1 paper
NM_005694.2
p.A10D
c.29C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."