Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.G114S

COX20

52 papers

RefSeq Summary

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mit...

Pfam Domains

Cox20aa 10–103UCSCCytochrome c oxidase assembly protein COX20

Gene Aliases

HGNC Name

cytochrome c oxidase assembly factor COX20

HGNC Previous Symbol

FAM36A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_198076.6
p.G114S
c.340G>A
Surrounding Variants
1 paper
NM_198076.6
p.G114R
c.340G>C
3 papers
NM_198076.6
p.N118S
c.353A>G
1 paper
NM_198076.6
p.E109Q
c.325G>C
1 paper
NM_001312873.1
p.K52Q
c.154A>C
1 paper
NM_198076.6
p.R89I
c.266G>T
6 papers
NM_198076.6
p.Q87*
c.259C>T
1 paper
NM_198076.6
p.N80_Y81del0
c.238_243del6
6 papers
NM_198076.6
p.W74C
c.222G>T
7 papers
NM_198076.6
p.W74C
c.222G>C
7 papers
NM_198076.6
p.W74C
c.222G>T
1 paper
NM_198076.6
p.S53Splc
c.157+7A>G
9 papers
NM_198076.6
p.S53Splc
c.157+3G>C
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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."