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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPUSD3

RPUSD3

3p25.3 (UCSC)OMIM GTEx

4 papers

RefSeq Summary

This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial prote...

Pfam Domains

PseudoU_synth_2aa 89–252UCSCRNA pseudouridylate synthase

Gene Aliases

HGNC Name

RNA pseudouridine synthase D3

HGNC Alias Symbol

MGC29784

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr3:9839094 C>T

NM_001351738.2

p.C269Y

c.806G>A

PseudoU_synth_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a25 overlapping SVs

chr3:9839073 G>A

NM_173659.5

p.R267*

c.799C>T

PseudoU_synth_2

Exome: 0.0% (AC=6, hom=0)Genome: n/a25 overlapping SVs

chr3:9838150 G>A

NM_173659.5

p.L300L

c.898C>T

exact variant not in gnomAD25 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."