Varaico: Literature-Extracted Genetic Variants

Gene:PEDS1-UBE2V1

PEDS1-UBE2V1

1 paper

RefSeq Summary

The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinc...

Pfam Domains

UQ_conaa 16–144UCSCUbiquitin-conjugating enzyme
UQ_conaa 16–144UCSCUbiquitin-conjugating enzyme
Lipid_desataa 84–250UCSCLipid desaturase domain
Lipid_desataa 84–261UCSCLipid desaturase domain
UQ_conaa 239–366UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

PEDS1-UBE2V1 readthrough

HGNC Previous Symbol

TMEM189-UBE2V1

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_199203.3
p.G250V
c.749G>T
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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."