Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.W74C

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
7 papers
NM_198076.6
p.W74C
c.222G>C
Surrounding Variants
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
14 papers
NM_198076.6
p.T52P
c.154A>C
1 paper
NM_198076.6
p.L39*
c.116T>A
1 paper
NM_198076.6
p.Y36C
c.107A>G
1 paper
NM_198076.6
p.I34_F49del16
c.100_146del48
1 paper
NM_198076.6
p.S33L
c.98C>T
1 paper
NM_198076.6
p.V24_E25insGT
c.70_74ins6
1 paper
NM_198076.6
p.L22*
c.65T>A
1 paper
NM_198076.6
p.L22*
c.65T>G
1 paper
NM_198076.6
p.F21S
c.62T>C
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