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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2F

Variant:p.E43D

UBE2F

2q37.3 (UCSC)OMIM GTEx

20 papers

Pfam Domains

UQ_conaa 36–180UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 F (putative)

HGNC Alias Symbol

NCE2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:237987973 A>C

NM_080678.3

p.E43D

c.129A>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

Surrounding Variants

chr2:237987973 A>T

NM_080678.3

p.E43D

c.129A>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a5 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."