Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.G315V

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
1 paper
NM_001303.4
p.G315V
c.944G>T
Surrounding Variants
1 paper
NM_001303.4
p.G316E
c.947G>A
1 paper
NM_001303.4
p.L318_Y319delFs
c.954_955delCT
1 paper
NM_001303.4
p.L318H
c.953T>A
1 paper
NM_001303.4
p.Y319fs
c.955_956fs
1 paper
NM_001303.4
p.Q322P
c.965A>C
1 paper
NM_001303.4
p.G310Splc
c.929-7C>T
1 paper
NM_001303.4
p.F323insFs
c.969dupT
3 papers
NM_001303.4
p.A328T
c.982G>A
1 paper
NM_001303.4
p.S330R
c.988A>C
1 paper
NM_001303.4
p.S330R
c.990C>A
1 paper
NM_001303.4
p.S330R
c.990C>G
5 papers
NM_001303.4
p.D336G
c.1007A>G
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