Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.C303R

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
8 papers
NM_024818.6
p.C303R
c.907T>C
Surrounding Variants
2 papers
NM_024818.6
p.C303*
c.909T>A
11 papers
NM_024818.6
p.Q302*
c.904C>T
1 paper
NM_024818.6
p.P301L
c.902C>T
1 paper
NM_024818.6
p.N300K
c.900T>A
1 paper
NM_024818.6
p.N300K
c.900T>G
3 papers
NM_024818.6
p.P299S
c.895C>T
10 papers
NM_024818.6
p.K310E
c.928A>G
NM_198329.4
p.K254E
c.760A>G
1 paper
NM_024818.6
p.T294A
c.880A>G
3 papers
NM_024818.6
p.Q312L
c.935A>T
1 paper
NM_024818.6
p.P293T
c.877C>A
1 paper
NM_024818.6
p.P293S
c.877C>T
1 paper
NM_024818.6
p.D290N
c.868G>A
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