Varaico: Literature-Extracted Genetic Variants

Gene:COX7A2L
Variant:p.T50A

COX7A2L

76 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex ...

Pfam Domains

COX7aaa 58–110UCSCCytochrome c oxidase subunit VII

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 7A2 like

HGNC Alias Symbols

EB1; COX7RP; COX7AR; SIG81; SCAFI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004718.4
p.T50A
c.148A>G
Surrounding Variants
1 paper
NM_004718.4
p.T50K
c.149C>A
1 paper
NM_004718.4
p.G56W
c.166G>T
2 papers
NM_004718.4
p.K44*
c.130A>T
1 paper
NM_004718.4
p.K59E
c.175A>G
1 paper
NM_004718.4
p.A34P
c.100G>C
1 paper
NM_004718.4
p.Q68_K69Splc
c.204+335G>C
1 paper
NM_004718.4
p.Q68_K69Splc
c.205-2A>G
1 paper
NM_004718.4
p.P74L
c.221C>T
1 paper
NM_004718.4
p.Y76Y
c.228C>T
1 paper
NM_004718.4
p.K78E
c.232A>G
1 paper
NM_004718.4
p.D83V
c.248A>T
1 paper
NM_004718.4
p.M85_L86del1
c.255_257delAGC
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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."