Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.*405L

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.*405L
c.1214A>T
Surrounding Variants
1 paper
NM_024818.6
p.*405Y
c.1215G>C
1 paper
NM_024818.6
p.N403S
c.1208A>G
1 paper
NM_024818.6
p.M401R
c.1202T>G
1 paper
NM_024818.6
p.M401delFs
c.1201delA
1 paper
NM_024818.6
p.L397R
c.1190T>G
5 papers
NM_024818.6
p.D389G
c.1166A>G
9 papers
NM_024818.6
p.D389Y
c.1165G>T
1 paper
NM_198329.4
p.D324insFs
c.971_972insC
1 paper
NM_024818.6
p.Y372F
c.1115A>T
1 paper
NM_024818.6
p.A371E
c.1112C>A
1 paper
NM_024818.6
p.A371V
c.1112C>T
45 papers
NM_024818.6
p.A371T
c.1111G>A
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