Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.R339W

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
7 papers
NM_001303.4
p.R339W
c.1015C>T
Surrounding Variants
5 papers
NM_001303.4
p.D336G
c.1007A>G
9 papers
NM_001303.4
p.D336V
c.1007A>T
2 papers
NM_001303.4
p.Y342C
c.1025A>G
2 papers
NM_001303.4
p.C343R
c.1027T>C
3 papers
NM_001303.4
p.M344V
c.1030A>G
1 paper
NM_001303.4
p.S346S
c.1038G>A
1 paper
NM_001303.4
p.S330R
c.990C>A
1 paper
NM_001303.4
p.S330R
c.990C>G
1 paper
NM_001303.4
p.S330R
c.988A>C
3 papers
NM_001303.4
p.A328T
c.982G>A
1 paper
NM_001303.4
p.R354Q
c.1061G>A
1 paper
NM_001303.4
p.F323insFs
c.969dupT
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