Varaico: Literature-Extracted Genetic Variants

Gene:COX4I1
Variant:p.E80K

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
Selected Variant
1 paper
NM_001861.6
p.E80K
c.238G>A
Surrounding Variants
1 paper
NM_001861.6
p.L81Splc
c.241+5G>A
1 paper
NM_001861.6
p.S72N
c.215G>A
1 paper
NM_001861.6
p.K53*
c.157A>T
1 paper
NM_001861.6
p.R41Q
c.122G>A
2 papers
NM_001861.6
p.Y38F
c.113A>T
1 paper
NM_001861.6
p.S26N
c.77G>A
1 paper
NM_001861.6
p.W100R
c.298T>C
5 papers
NM_001861.6
p.K101N
c.303G>C
5 papers
NM_001861.6
p.K101N
c.303G>T
3 papers
NM_001861.6
p.K101_T102delins
c.303_304delinsTT
1 paper
NM_001861.6
p.V104insFs
c.311_312insAT
1 paper
NM_001861.6
p.V104_A107delFs
c.312_321del10
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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."