Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.G359D

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.G359D
c.1076G>A
Surrounding Variants
1 paper
NM_024818.6
p.F357V
c.1069T>G
1 paper
NM_024818.6
p.P362A
c.1084C>G
1 paper
NM_024818.6
p.N356K
c.1068T>A
1 paper
NM_024818.6
p.N356K
c.1068T>G
1 paper
NM_024818.6
p.N356I
c.1067A>T
4 papers
NM_024818.6
p.G367_I368insGA
c.1099_1103ins6
1 paper
NM_024818.6
p.S350L
c.1049C>T
1 paper
NM_024818.6
p.T369A
c.1105A>G
2 papers
NM_024818.6
p.E348K
c.1042G>A
45 papers
NM_024818.6
p.A371T
c.1111G>A
1 paper
NM_024818.6
p.A371E
c.1112C>A
1 paper
NM_024818.6
p.A371V
c.1112C>T
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