Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.R307*

COX18

47 papers

RefSeq Summary

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytoc...

Pfam Domains

60KD_IMPaa 73–302UCSC60Kd inner membrane protein

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor COX18

HGNC Alias Symbols

FLJ38991; OXA1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001297732.2
p.R307*
c.919C>T
Surrounding Variants
1 paper
NM_001297732.2
p.P309S
c.925C>T
1 paper
NM_001297732.2
p.R303P
c.908G>C
2 papers
NM_001300729.1
p.R305H
c.914G>A
1 paper
NM_001300729.1
p.G303A
c.908G>C
2 papers
NM_001297732.2
p.R298P
c.893G>C
NM_173827.4
p.R297P
c.890G>C
1 paper
NM_001297732.2
p.*335S
c.1004G>C
1 paper
NM_001297732.2
p.A273V
c.818C>T
1 paper
NM_001297732.2
p.P270S
c.808C>T
1 paper
NM_001297732.2
p.R262C
c.784C>T
1 paper
NM_001297732.2
p.E241_I242Splc
c.724-1G>A
1 paper
NM_001297732.2
p.G233C
c.697G>T
1 paper
NM_001297732.2
p.W226R
c.676T>C
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