Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.L72R

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.L72R
c.215T>G
Surrounding Variants
1 paper
NM_001297732.2
p.L72P
c.215T>C
1 paper
NM_001297732.2
p.L71P
c.212T>C
1 paper
NM_001297732.2
p.S62fs
c.184_185fs
2 papers
NM_001297732.2
p.S62delFs
c.185delG
1 paper
NM_001297732.2
p.S61delFs
c.182_183delAG
1 paper
NM_001297732.2
p.S62fs
c.184_185fs
1 paper
NM_001297732.2
p.S61fs
c.181_182fs
1 paper
NM_001297732.2
p.K34_V49del16
c.100_146del48
1 paper
NM_001297732.2
p.L99delFs
c.295delG
2 papers
NM_001297732.2
p.A110P
c.328G>C
1 paper
NM_001297732.2
p.A33T
c.97G>A
1 paper
NM_001297732.2
p.Q17_P24del8
c.49_71del24
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