Varaico: Literature-Extracted Genetic Variants

Gene:UBA5

UBA5

119 papers

RefSeq Summary

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation ...

Pfam Domains

ThiFaa 53–305UCSCThiF family
ThiFaa 53–305UCSCThiF family

Gene Aliases

HGNC Name

ubiquitin like modifier activating enzyme 5

HGNC Previous Symbol

UBE1DC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 187 variants
45 papers
NM_024818.6
p.A371T
c.1111G>A
17 papers
NM_024818.6
p.M57V
c.169A>G
15 papers
NM_024818.6
p.R55H
c.164G>A
13 papers
NM_024818.6
p.V260M
c.778G>A
11 papers
NM_024818.6
p.Q302*
c.904C>T
10 papers
NM_024818.6
p.R72C
c.214C>T
9 papers
NM_024818.6
p.G168E
c.503G>A
9 papers
NM_024818.6
p.R188*
c.562C>T
9 papers
NM_024818.6
p.K310E
c.928A>G
9 papers
NM_024818.6
p.D389Y
c.1165G>T
8 papers
NM_024818.6
p.C303R
c.907T>C
7 papers
NM_024818.6
p.Y53F
c.158A>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."