Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.V266L

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
Selected Variant
1 paper
NM_024818.6
p.V266L
c.796G>T
Surrounding Variants
1 paper
NM_024818.6
p.V266L
c.796G>C
2 papers
NM_024818.6
p.Q267*
c.799C>T
1 paper
NM_024818.6
p.G263E
c.788G>A
1 paper
NM_024818.6
p.V269M
c.805G>A
2 papers
NM_024818.6
p.K271N
c.813G>C
2 papers
NM_024818.6
p.K271N
c.813G>T
13 papers
NM_024818.6
p.V260M
c.778G>A
1 paper
NM_024818.6
p.G259S
c.775G>A
7 papers
NM_024818.6
p.L254P
c.761T>C
4 papers
NM_024818.6
p.C250S
c.749G>C
4 papers
NM_024818.6
p.C250S
c.748T>A
1 paper
NM_024818.6
p.V249I
c.745G>A
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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."