Varaico: Literature-Extracted Genetic Variants

Gene:COX4I1

COX4I1

92 papers

RefSeq Summary

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxy...

Pfam Domains

COX4aa 30–168UCSCCytochrome c oxidase subunit IV

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 4I1

HGNC Previous Symbol

COX4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
5 papers
NM_001861.6
p.A3T
c.7G>A
5 papers
NM_001861.6
p.K101N
c.303G>C
5 papers
NM_001861.6
p.K101N
c.303G>T
5 papers
NM_001861.6
p.P152T
c.454C>A
3 papers
NM_001861.6
p.K101_T102delins
c.303_304delinsTT
2 papers
NM_001861.6
p.A23V
c.68C>T
2 papers
NM_001861.6
p.Y38F
c.113A>T
2 papers
NM_001861.6
p.A157T
c.469G>A
1 paper
NM_001861.6
p.V10A
c.29T>C
1 paper
NM_001861.6
p.T17N
c.50C>A
1 paper
NM_001861.6
p.R22*
c.64C>T
1 paper
NM_001861.6
p.A23T
c.67G>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."