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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX7C

COX7C

14 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

COX7Caa 1–62UCSCCytochrome c oxidase subunit VIIc

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 7C

HGNC Previous Name

cytochrome c oxidase subunit VIIc

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr5:86618057 T>C

NM_001867.3

p.M1T

c.2T>C

COX7C

exact variant not in gnomAD97 overlapping SVs

1 paper

chr5:86618122 C>T

NM_001867.3

p.P23S

c.67C>T

COX7C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)97 overlapping SVs

1 paper

chr5:86619383 T>C

NM_001867.3

p.S36P

c.106T>C

COX7C

Exome: 0.0% (AC=1, hom=0)Genome: n/a97 overlapping SVs

1 paper

chr5:86619385 G>A

NM_001867.3

p.S36S

c.108G>A

COX7C

Exome: 0.1% (AC=960, hom=8)Genome: 0.1% (AC=87, hom=0)97 overlapping SVs

1 paper

chr5:86619444 T>TA

NM_001867.3

p.R57insFs

c.169dupA

COX7C

exact variant not in gnomAD97 overlapping SVs

1 paper

chr5:86619446 A>G

NM_001867.3

p.R57G

c.169A>G

COX7C

Exome: 0.0% (AC=2, hom=0)Genome: n/a97 overlapping SVs

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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."