Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.*70insFs

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.*70insFs
c.208_209insC
Surrounding Variants
1 paper
NM_004074.3
p.E69D
c.207G>C
1 paper
NM_004074.3
p.P68Q
c.203C>A
1 paper
NM_004074.3
p.P68L
c.203C>T
1 paper
NM_004074.3
p.P68A
c.202C>G
1 paper
NM_004074.3
p.R67K
c.200G>A
1 paper
NM_004074.3
p.R67M
c.200G>T
1 paper
NM_004074.3
p.R67G
c.199A>G
1 paper
NM_004074.3
p.R66K
c.197G>A
1 paper
NM_004074.3
p.R66M
c.197G>T
1 paper
NM_004074.3
p.R66R
c.196A>C
1 paper
NM_004074.3
p.Y65*
c.195C>G
2 papers
NM_004074.3
p.Y65C
c.194A>G
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