Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.C250S

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
4 papers
NM_024818.6
p.C250S
c.748T>A
Surrounding Variants
4 papers
NM_024818.6
p.C250S
c.749G>C
1 paper
NM_024818.6
p.V249I
c.745G>A
7 papers
NM_024818.6
p.R246*
c.736C>T
NM_198329.4
p.R190*
c.568C>T
7 papers
NM_024818.6
p.L254P
c.761T>C
1 paper
NM_024818.6
p.L244L
c.732G>T
1 paper
NM_024818.6
p.G259S
c.775G>A
1 paper
NM_024818.6
p.E241fs
c.721_722fs
1 paper
NM_024818.6
p.E241insFs
c.722_723ins4
13 papers
NM_024818.6
p.V260M
c.778G>A
1 paper
NM_024818.6
p.G263E
c.788G>A
1 paper
NM_024818.6
p.A236T
c.706G>A
1 paper
NM_024818.6
p.V266L
c.796G>C
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