Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.M1T

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
2 papers
NM_198076.6
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_198076.6
p.A2_P5del0
c.4_15del12
1 paper
NM_198076.6
p.A2A
c.6C>A
1 paper
NM_198076.6
p.A3insFs
c.7_8insC
2 papers
NM_198076.6
p.A3S
c.7G>T
1 paper
NM_198076.6
p.A3_E6delFs
c.9_16del8
1 paper
NM_198076.6
p.P4A
c.10C>G
1 paper
NM_198076.6
p.E6_K14delFs
c.17_42del26
1 paper
NM_198076.6
p.E6_G8delFs
c.17_24del8
2 papers
NM_198076.6
p.E6G
c.17A>G
1 paper
NM_198076.6
p.P7_G8insC
c.19_23ins3
1 paper
NM_198076.6
p.P7_R13delFs
c.20_39del20
1 paper
NM_198076.6
p.G8_E9insFs
c.24_25insGT
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