Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.G36D

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.G36D
c.107G>A
Surrounding Variants
1 paper
NM_024818.6
p.G36_R37del2
c.106_110del6
1 paper
NM_024818.6
p.R37Q
c.110G>A
1 paper
NM_024818.6
p.V38I
c.112G>A
1 paper
NM_024818.6
p.D32_G33delFs
c.96_97delCG
1 paper
NM_024818.6
p.I40M
c.120C>G
1 paper
NM_024818.6
p.M43_S44insFs
c.129_130insGG
1 paper
NM_024818.6
p.R29_S30insA
c.85_89ins3
1 paper
NM_024818.6
p.S44fs
c.130_131fs
1 paper
NM_024818.6
p.P28delFs
c.83delC
2 papers
NM_024818.6
p.E46K
c.136G>A
1 paper
NM_024818.6
p.E46V
c.137A>T
1 paper
NM_024818.6
p.Q26K
c.76C>A
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