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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX7A1

COX7A1

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

COX7aaa 24–76UCSCCytochrome c oxidase subunit VII

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 7A1

HGNC Alias Symbol

COX7AH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr19:36151677 GCTT>G

NM_001864.4

p.K31del1

c.91_92delCTT

COX7a

Exome: 0.3% (AC=2858, hom=27)Genome: 0.2% (AC=220, hom=0)10 overlapping SVs

1 paper

chr19:36152390 C>T

NM_001864.4

p.R5_V6Splc

c.15+3G>A

Exome: 0.0% (AC=347, hom=0)Genome: 0.0% (AC=33, hom=0)10 overlapping SVs

1 paper

chr19:36151760 G>T

NM_001864.4

p.R5_V6Splc

c.16-5C>A

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

1 paper

chr19:36151688 T>C

NM_001864.4

p.E28G

c.83A>G

COX7a

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:36151667 A>C

NM_001864.4

p.Q34_E35Splc

c.102+2T>G

Exome: 2.7% (AC=17531, hom=1)Genome: 3.8% (AC=2229, hom=0)10 overlapping SVs

1 paper

chr19:36151660 A>C

NM_001864.4

p.Q34_E35Splc

c.102+9T>G

Exome: 49.6% (AC=512913, hom=86297)Genome: 57.0% (AC=82039, hom=22765)10 overlapping SVs

1 paper

chr19:36151653 C>G

NM_001864.4

p.Q34_E35Splc

c.102+16G>C

Exome: 0.0% (AC=612, hom=10)Genome: 0.0% (AC=32, hom=0)10 overlapping SVs

1 paper

chr19:36151488 C>T

NM_001864.4

p.R54Q

c.161G>A

COX7a

Exome: 0.0% (AC=663, hom=0)Genome: 0.0% (AC=24, hom=0)10 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."