Varaico: Literature-Extracted Genetic Variants

Gene:COX8A
Variant:p.G56delFs

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.G56delFs
c.166delG
Surrounding Variants
1 paper
NM_004074.3
p.P54L
c.161C>T
2 papers
NM_004074.3
p.G56A
c.167G>C
2 papers
NM_004074.3
p.P54A
c.160C>G
1 paper
NM_004074.3
p.P54S
c.160C>T
1 paper
NM_004074.3
p.L53Q
c.158T>A
1 paper
NM_004074.3
p.L52_L53insFs
c.156_157insC
1 paper
NM_004074.3
p.L52V
c.154C>G
1 paper
NM_004074.3
p.L52F
c.154C>T
1 paper
NM_004074.3
p.F51L
c.153C>A
1 paper
NM_004074.3
p.F51L
c.153C>G
1 paper
NM_004074.3
p.L59Q
c.176T>A
2 papers
NM_004074.3
p.F51S
c.152T>C
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