Varaico: Literature-Extracted Genetic Variants

Gene:COA5

COA5

16 papers

RefSeq Summary

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochro...

Pfam Domains

Pet191_Naa 11–71UCSCCytochrome c oxidase assembly protein PET191

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor 5

HGNC Previous Symbol

C2orf64

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_001008215.3
p.A53P
c.157G>C
1 paper
NM_001008215.3
p.P2R
c.5C>G
1 paper
NM_001008215.3
p.P9L
c.26C>T
1 paper
NM_001008215.3
p.L25Q
c.74T>A
1 paper
NM_001008215.3
p.R39Q
c.116G>A
1 paper
NM_001008215.3
p.G45R
c.133G>C
1 paper
NM_001008215.3
p.G45R
c.133G>A
1 paper
NM_001008215.3
p.G45E
c.134G>A
1 paper
NM_001008215.3
p.L50F
c.150G>T
1 paper
NM_001008215.3
p.L50F
c.150G>C
1 paper
NM_001008215.3
p.V61del1
c.181_182delCAC
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