Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.L169V

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
1 paper
NM_024818.6
p.L169V
c.505T>G
Surrounding Variants
9 papers
NM_024818.6
p.G168E
c.503G>A
1 paper
NM_024818.6
p.K173E
c.517A>G
1 paper
NM_024818.6
p.L177V
c.529C>G
1 paper
NM_024818.6
p.L177L
c.529C>T
1 paper
NM_024818.6
p.L177L
c.531A>T
2 papers
NM_198329.4
p.L123insFs
c.367_368insGA
1 paper
NM_024818.6
p.E186K
c.556G>A
9 papers
NM_024818.6
p.R188*
c.562C>T
1 paper
NM_024818.6
p.R188Q
c.563G>A
1 paper
NM_024818.6
p.I191M
c.573A>G
1 paper
NM_024818.6
p.S165N
c.494G>A
1 paper
NM_198329.4
p.D106V
c.317A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."