Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.G6fs

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.G6fs
c.16_17fs
Surrounding Variants
1 paper
NM_001297732.2
p.G6G
c.18C>T
1 paper
NM_001297732.2
p.C3_G6delFs
c.9_16del8
1 paper
NM_001297732.2
p.L2_L5del0
c.4_15del12
1 paper
NM_001297732.2
p.G7fs
c.19_20fs
1 paper
NM_001297732.2
p.G6_R8delFs
c.17_24del8
2 papers
NM_001297732.2
p.R4W
c.10C>T
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.G7_L13delFs
c.20_39del20
1 paper
NM_001297732.2
p.G6_P14delFs
c.17_42del26
3 papers
NM_001297732.2
p.L16P
c.47T>C
1 paper
NM_001297732.2
p.R4_A15del12
c.10_44del36
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