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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2D4

Variant:p.G27S

UBE2D4

7p13 (UCSC)GTEx

18 papers

Pfam Domains

UQ_conaa 5–142UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 D4

HGNC Alias Symbol

HBUCE1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:43938485 G>A

NM_015983.4

p.G27S

c.79G>A

Exome: 2.5% (AC=36321, hom=585)Genome: 2.1% (AC=3177, hom=63)83 overlapping SVs

Surrounding Variants

chr7:43938452 G>A

NM_015983.4

p.D16N

c.46G>A

exact variant not in gnomAD83 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."