Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.R55fs

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
2 papers
NM_024818.6
p.R55fs
c.163_164fs
Surrounding Variants
2 papers
NM_024818.6
p.R55_A58delFs
c.164_174del11
15 papers
NM_024818.6
p.R55H
c.164G>A
17 papers
NM_024818.6
p.M57V
c.169A>G
7 papers
NM_024818.6
p.R61*
c.181C>T
1 paper
NM_024818.6
p.R61Q
c.182G>A
1 paper
NM_024818.6
p.S66S
c.198C>T
2 papers
NM_024818.6
p.D67N
c.199G>A
2 papers
NM_024818.6
p.D67Y
c.199G>T
1 paper
NM_024818.6
p.E69_K70Splc
c.207+2T>C
1 paper
NM_024818.6
p.I71delFs
c.211delA
1 paper
NM_024818.6
p.I71fs
c.211_212fs
1 paper
NM_024818.6
p.R72_V79del0
c.214_237del24
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