Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.E39D

COX8A

575 papers

RefSeq Summary

The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton ...

Pfam Domains

COX8aa 26–68UCSCCytochrome oxidase c subunit VIII

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 8A

HGNC Previous Symbol

COX8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004074.3
p.E39D
c.117A>C
Surrounding Variants
1 paper
NM_004074.3
p.E39D
c.117A>T
1 paper
NM_004074.3
p.L40L
c.118T>C
1 paper
NM_004074.3
p.E39Q
c.115G>C
2 papers
NM_004074.3
p.E39fs
c.115_116fs
1 paper
NM_004074.3
p.M38_E39Splc
c.115-1G>A
3 papers
NM_004074.3
p.M38_E39Splc
c.115-1G>C
1 paper
NM_004074.3
p.M38_E39Splc
c.115-1G>T
2 papers
NM_004074.3
p.A41S
c.121G>T
1 paper
NM_004074.3
p.A41A
c.123C>A
1 paper
NM_004074.3
p.M38_E39Splc
c.114+1425G>C
1 paper
NM_004074.3
p.V42A
c.125T>C
1 paper
NM_004074.3
p.G43R
c.127G>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."