Varaico: Literature-Extracted Genetic Variants

Gene:COX4I2
Variant:p.R97C

COX4I2

33 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3...

Pfam Domains

COX4aa 33–170UCSCCytochrome c oxidase subunit IV

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 4I2

HGNC Previous Symbol

COX4L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032609.3
p.R97C
c.289C>T
Surrounding Variants
2 papers
NM_032609.3
p.A93V
c.278C>T
3 papers
NM_032609.3
p.R85W
c.253C>T
1 paper
NM_032609.3
p.V109I
c.325G>A
1 paper
NM_032609.3
p.I113T
c.338T>C
1 paper
NM_032609.3
p.V125A
c.374T>C
1 paper
NM_032609.3
p.V127Splc
c.380-2A>G
5 papers
NM_032609.3
p.E138K
c.412G>A
1 paper
NM_032609.3
p.V152E
c.455T>A
1 paper
NM_032609.3
p.V155A
c.464T>C
2 papers
NM_032609.3
p.R161H
c.482G>A
1 paper
NM_032609.3
p.L83Splc
c.247+1G>A
2 papers
NM_032609.3
p.K80E
c.238A>G
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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."