Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.P217L

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.P217L
c.650C>T
Surrounding Variants
1 paper
NM_001300729.1
p.A223P
c.667G>C
4 papers
NM_001297732.2
p.D223H
c.667G>C
1 paper
NM_001297732.2
p.T210I
c.629C>T
1 paper
NM_001297732.2
p.A209G
c.626C>G
1 paper
NM_001297732.2
p.W226R
c.676T>C
1 paper
NM_001297732.2
p.Q207*
c.619C>T
1 paper
NM_001297732.2
p.Q205*
c.613C>T
1 paper
NM_001297732.2
p.V204F
c.610G>T
1 paper
NM_001297732.2
p.G233C
c.697G>T
1 paper
NM_173827.4
p.G200S
c.598G>A
2 papers
NM_001297732.2
p.A200T
c.598G>A
1 paper
NM_001297732.2
p.R189Q
c.566G>A
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