Varaico: Literature-Extracted Genetic Variants

Gene:COX7B
Variant:p.L42delFs

COX7B

15 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

COX7Baa 1–79UCSCCytochrome C oxidase chain VIIB

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 7B

HGNC Previous Name

cytochrome c oxidase subunit VIIb

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001866.3
p.L42delFs
c.124_125delTT
Surrounding Variants
1 paper
NM_001866.3
p.M21V
c.61A>G
2 papers
NM_001866.3
p.Q19*
c.55C>T
1 paper
NM_001866.3
p.Q18L
c.53A>T
2 papers
NM_001866.3
p.V14fs
c.40_41fs
2 papers
NM_001866.3
p.V14Splc
c.41-2A>G
2 papers
NM_001866.3
p.L66delFs
c.196delC
2 papers
NM_001866.3
p.L66fs
c.196_197fs
1 paper
NM_001866.3
p.T73N
c.218C>A
1 paper
NM_001866.3
p.V14Splc
c.40+5G>A
1 paper
NM_001866.3
p.V14I
c.40G>A
1 paper
NM_001866.3
p.P3P
c.9C>T
1 paper
NM_001866.3
p.M1insFs
c.2dupT
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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."