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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UQCC5

UQCC5

3p21.1 (UCSC)OMIM GTEx

3 papers

Pfam Domains

UPF0640aa 2–68UCSCUncharacterised protein family UPF0640

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase complex assembly factor 5

HGNC Previous Symbol

C3orf78

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr3:52536801 G>A

NM_001124767.2

p.G16R

c.46G>A

exact variant not in gnomAD58 overlapping SVs

chr3:52540436 G>A

NM_001124767.2

p.R55H

c.164G>A

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=15, hom=0)57 overlapping SVs

chr3:52540453 A>G

NM_001124767.2

p.R61G

c.181A>G

exact variant not in gnomAD57 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."