Varaico: Literature-Extracted Genetic Variants

Gene:COA6
Variant:p.Y134delFs

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
Selected Variant
1 paper
NM_001206641.3
p.Y134delFs
c.401delA
Surrounding Variants
2 papers
NM_001206641.3
p.W124_I125Splc
c.373-4A>G
1 paper
NM_001206641.3
p.G144G
c.432A>G
1 paper
NM_001206641.3
p.W124_I125Splc
c.372+1G>C
1 paper
NM_001012985.2
p.W66R
c.196T>A
1 paper
NM_001012985.2
p.W66R
c.196T>C
2 papers
NM_001012985.2
p.W59C
c.177G>C
2 papers
NM_001012985.2
p.W59C
c.177G>T
1 paper
NM_001206641.3
p.C88S
c.262T>A
1 paper
NM_001206641.3
p.V87F
c.259G>T
1 paper
NM_001206641.3
p.Q86L
c.257A>T
1 paper
NM_001206641.3
p.M77I
c.231G>A
1 paper
NM_001206641.3
p.M77I
c.231G>C
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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."