Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.E46V

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.E46V
c.137A>T
Surrounding Variants
2 papers
NM_024818.6
p.E46K
c.136G>A
1 paper
NM_024818.6
p.E46D
c.138G>C
1 paper
NM_024818.6
p.E46D
c.138G>T
1 paper
NM_024818.6
p.S44fs
c.130_131fs
1 paper
NM_024818.6
p.M43_S44insFs
c.129_130insGG
1 paper
NM_024818.6
p.I40M
c.120C>G
7 papers
NM_024818.6
p.Y53F
c.158A>T
1 paper
NM_024818.6
p.S54insFs
c.160dupA
1 paper
NM_024818.6
p.S54N
c.161G>A
1 paper
NM_024818.6
p.V38I
c.112G>A
1 paper
NM_024818.6
p.S54Splc
c.161+1G>A
1 paper
NM_024818.6
p.R37Q
c.110G>A
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