Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
2 papers
NM_024818.6
p.M1V
c.1A>G
1 paper
NM_024818.6
p.M1I
c.3G>T
1 paper
NM_024818.6
p.V5L
c.13G>C
1 paper
NM_024818.6
p.V5L
c.13G>T
1 paper
NM_024818.6
p.R7C
c.19C>T
1 paper
NM_024818.6
p.Q10insFs
c.29_30insA
5 papers
NM_024818.6
p.R11W
c.31C>T
1 paper
NM_024818.6
p.R11fs
c.31_32fs
1 paper
NM_024818.6
p.R11Q
c.32G>A
1 paper
NM_024818.6
p.V12_Q13delFs
c.36_37delCC
1 paper
NM_024818.6
p.Q13fs
c.37_38fs
1 paper
NM_024818.6
p.Q13*
c.37C>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."