Varaico: Literature-Extracted Genetic Variants

Gene:COA8

COA8

20 papers

RefSeq Summary

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in indi...

Pfam Domains

COA8aa 53–139UCSCCytochrome c oxidase assembly factor 8

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor 8

HGNC Previous Symbols

C14orf153; APOPT1

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_001370595.2
p.L124del1
c.370_372delCTG
2 papers
NM_001370595.2
p.V2G
c.5T>G
2 papers
NM_001370595.2
p.P14T
c.40C>A
1 paper
NM_001370595.2
p.G7W
c.19G>T
1 paper
NM_001370595.2
p.L12P
c.35T>C
1 paper
NM_001370595.2
p.G31R
c.91G>C
1 paper
NM_001370595.2
p.K50E
c.148A>G
1 paper
NM_001370595.2
p.G57_P58insFs
c.170_173dup4
1 paper
NM_001370595.2
p.P59fs
c.175_176fs
1 paper
NM_001370595.2
p.P59fs
c.175_176fs
1 paper
NM_001370595.2
p.K82R
c.245A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."