Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.K14T

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
1 paper
NM_198076.6
p.K14T
c.41A>C
Surrounding Variants
18 papers
NM_198076.6
p.K14R
c.41A>G
1 paper
NM_198076.6
p.K14_S15Splc
c.42+1G>A
1 paper
NM_198076.6
p.E9K
c.25G>A
1 paper
NM_198076.6
p.G8_E9insFs
c.24_25insGT
1 paper
NM_198076.6
p.G8C
c.22G>T
2 papers
NM_198076.6
p.G8fs
c.22_23fs
1 paper
NM_198076.6
p.P7_G8insC
c.19_23ins3
1 paper
NM_198076.6
p.P7_R13delFs
c.20_39del20
2 papers
NM_198076.6
p.E6G
c.17A>G
1 paper
NM_198076.6
p.E6_G8delFs
c.17_24del8
1 paper
NM_198076.6
p.E6_K14delFs
c.17_42del26
1 paper
NM_198076.6
p.P4A
c.10C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."