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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUS2

Variant:p.P26P

DUS2

38 papers

RefSeq Summary

This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to ...

Pfam Domains

Dusaa 15–342UCSCDihydrouridine synthase (Dus)

dsrmaa 370–434UCSCDouble-stranded RNA binding motif

Gene Aliases

HGNC Name

dihydrouridine synthase 2

HGNC Previous Symbol

DUS2L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:68038101 A>G

NM_017803.5

p.P26P

c.78A>G

Dus

Exome: 4.2% (AC=61313, hom=1489)Genome: 3.7% (AC=5693, hom=117)13 overlapping SVs

Surrounding Variants

1 paper

chr16:68038084 C>T

NM_017803.5

p.R21W

c.61C>T

Dus

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr16:68038130 C>A

NM_017803.5

p.A36E

c.107C>A

Dus

exact variant not in gnomAD13 overlapping SVs

1 paper

chr16:68038135 A>G

NM_017803.5

p.I38V

c.112A>G

Dus

Exome: 0.0% (AC=27, hom=1)Genome: n/a13 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."