Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.V207fs

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.V207fs
c.619_620fs
Surrounding Variants
1 paper
NM_024818.6
p.V207insFs
c.619dupG
1 paper
NM_024818.6
p.V207delFs
c.619delG
1 paper
NM_024818.6
p.M203I
c.609G>A
1 paper
NM_024818.6
p.M203I
c.609G>C
1 paper
NM_024818.6
p.M203I
c.609G>T
1 paper
NM_024818.6
p.W202*
c.606G>A
1 paper
NM_024818.6
p.W202*
c.605G>A
1 paper
NM_024818.6
p.L218L
c.654T>C
6 papers
NM_024818.6
p.A228A
c.684G>A
1 paper
NM_024818.6
p.P231L
c.692C>T
1 paper
NM_024818.6
p.L233H
c.698T>A
1 paper
NM_024818.6
p.A236T
c.706G>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."