Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.Y285*

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
6 papers
NM_024818.6
p.Y285*
c.855C>A
Surrounding Variants
6 papers
NM_024818.6
p.Y285*
c.855C>G
1 paper
NM_024818.6
p.G284R
c.850G>A
1 paper
NM_024818.6
p.G284R
c.850G>C
1 paper
NM_024818.6
p.M288T
c.863T>C
1 paper
NM_024818.6
p.D290N
c.868G>A
1 paper
NM_024818.6
p.P293T
c.877C>A
1 paper
NM_024818.6
p.T278S
c.833C>G
1 paper
NM_024818.6
p.P293S
c.877C>T
1 paper
NM_024818.6
p.T278S
c.832A>T
1 paper
NM_024818.6
p.T294A
c.880A>G
1 paper
NM_024818.6
p.G277S
c.829G>A
3 papers
NM_024818.6
p.P299S
c.895C>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."