Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.L16P

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
3 papers
NM_001297732.2
p.L16P
c.47T>C
Surrounding Variants
1 paper
NM_001297732.2
p.R4_A15del12
c.10_44del36
1 paper
NM_001297732.2
p.W9_L16delFs
c.25_46del22
1 paper
NM_001297732.2
p.W9_L16del8
c.25_47del24
1 paper
NM_001297732.2
p.G6_P14delFs
c.17_42del26
1 paper
NM_001297732.2
p.P12_Q17delFs
c.34_49del16
1 paper
NM_001297732.2
p.G7_L13delFs
c.20_39del20
1 paper
NM_001297732.2
p.R8_W9insFs
c.24_25insGT
1 paper
NM_001297732.2
p.W9fs
c.25_26fs
1 paper
NM_001297732.2
p.G6_R8delFs
c.17_24del8
1 paper
NM_001297732.2
p.P24_L25insGT
c.70_74ins6
1 paper
NM_001297732.2
p.P24R
c.71C>G
1 paper
NM_001297732.2
p.G7fs
c.19_20fs
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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."