Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.N204K

COX10

162 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex ...

Pfam Domains

UbiAaa 169–418UCSCUbiA prenyltransferase family

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10

HGNC Previous Names

COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast); cytochrome c oxidase assembly homolog 10 (yeast); COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_001303.4
p.N204K
c.612C>G
Surrounding Variants
14 papers
NM_001303.4
p.N204K
c.612C>A
5 papers
NM_001303.4
p.N204D
c.610A>G
9 papers
NM_001303.4
p.T196K
c.587C>A
1 paper
NM_001303.4
p.T196_G197insA
c.586_590ins3
1 paper
NM_001303.4
p.L191insFs
c.572_573ins4
1 paper
NM_001303.4
p.D185D
c.555C>T
1 paper
NM_001303.4
p.F177C
c.530T>G
1 paper
NM_001303.4
p.A174T
c.520G>A
2 papers
NM_001303.4
p.L168L
c.504G>A
1 paper
NM_001303.4
p.A167Splc
c.500-49T>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."