Varaico: Literature-Extracted Genetic Variants

Gene:COX4I1
Variant:p.A157T

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
2 papers
NM_001861.6
p.A157T
c.469G>A
Surrounding Variants
1 paper
NM_001861.6
p.D161D
c.483C>T
5 papers
NM_001861.6
p.P152T
c.454C>A
1 paper
NM_001861.6
p.W167*
c.500G>A
1 paper
NM_001861.6
p.W167*
c.501G>A
1 paper
NM_001861.6
p.V138M
c.412G>A
1 paper
NM_001861.6
p.L129V
c.385C>G
1 paper
NM_001861.6
p.P128L
c.383C>T
1 paper
NM_001861.6
p.G127G
c.381C>T
1 paper
NM_001861.6
p.V125Splc
c.374-8C>G
1 paper
NM_001861.6
p.I118T
c.353T>C
1 paper
NM_001861.6
p.T114A
c.340A>G
1 paper
NM_001861.6
p.I111_G112delFs
c.331_334del4
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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."