Varaico: Literature-Extracted Genetic Variants

Gene:COA6

COA6

32 papers

RefSeq Summary

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex...

Pfam Domains

COX6Baa 47–112UCSCCytochrome oxidase c subunit VIb

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor 6

HGNC Previous Symbol

C1orf31

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
3 papers
NM_001206641.3
p.A64G
c.191C>G
2 papers
NM_001206641.3
p.S16T
c.47G>C
2 papers
NM_001012985.2
p.W59C
c.177G>C
2 papers
NM_001012985.2
p.W59C
c.177G>T
2 papers
NM_001206641.3
p.W124_I125Splc
c.373-4A>G
1 paper
NM_001206641.3
p.R13C
c.37C>T
1 paper
NM_001206641.3
p.R13delFs
c.38delG
1 paper
NM_001206641.3
p.R14R
c.42C>T
1 paper
NM_001206641.3
p.L21L
c.63G>A
1 paper
NM_001206641.3
p.L49W
c.146T>G
1 paper
NM_001206641.3
p.V53L
c.157G>C
1 paper
NM_001206641.3
p.V53L
c.157G>T
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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."