Varaico: Literature-Extracted Genetic Variants

Gene:COX10
Variant:p.R398H

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
2 papers
NM_001303.4
p.R398H
c.1193G>A
Surrounding Variants
1 paper
NM_001303.4
p.R398C
c.1192C>T
1 paper
NM_001303.4
p.A403T
c.1207G>A
3 papers
NM_001303.4
p.D404G
c.1211A>G
3 papers
NM_001303.4
p.D404V
c.1211A>T
1 paper
NM_001303.4
p.Y391H
c.1171T>C
1 paper
NM_001303.4
p.I383_M384insTAA
c.1147_1151ins9
1 paper
NM_001303.4
p.C414S
c.1240T>A
1 paper
NM_001303.4
p.P382R
c.1145C>G
1 paper
NM_001303.4
p.C414S
c.1241G>C
1 paper
NM_001303.4
p.S415N
c.1244G>A
1 paper
NM_001303.4
p.T380I
c.1139C>T
1 paper
NM_001303.4
p.H418Y
c.1252C>T
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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."