Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.R145Splc

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
2 papers
NM_001297732.2
p.R145Splc
c.435-6A>G
Surrounding Variants
1 paper
NM_001297732.2
p.N151D
c.451A>G
1 paper
NM_001297732.2
p.S157L
c.470C>T
1 paper
NM_001297732.2
p.V174D
c.521T>A
1 paper
NM_001297732.2
p.Q177H
c.531G>T
1 paper
NM_001297732.2
p.Q177H
c.531G>C
1 paper
NM_001297732.2
p.M180V
c.538A>G
1 paper
NM_001297732.2
p.S185F
c.554C>T
1 paper
NM_001297732.2
p.R189Q
c.566G>A
2 papers
NM_001297732.2
p.A200T
c.598G>A
1 paper
NM_173827.4
p.G200S
c.598G>A
1 paper
NM_001297732.2
p.V204F
c.610G>T
1 paper
NM_001297732.2
p.Q205*
c.613C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."