Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1

UBQLN1

106 papers

RefSeq Summary

This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and...

Pfam Domains

ubiquitinaa 39–109UCSCUbiquitin family
UBQLN1aa 178–297UCSCUbiquilin-1-like domain
UBAaa 546–583UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquilin 1

HGNC Alias Symbols

DSK2; PLIC-1; XDRP1; DA41

Papers
RefSeq ID
Protein change
DNA change
1–12 of 274 variants
4 papers
NM_013438.5
p.E54D
c.162G>T
4 papers
NM_013438.5
p.E54D
c.162G>C
4 papers
NM_013438.5
p.G355V
c.1064G>T
3 papers
NM_013438.5
p.T128S
c.382A>T
2 papers
NM_013438.5
p.G22V
c.65G>T
2 papers
NM_013438.5
p.A32E
c.95C>A
2 papers
NM_013438.5
p.P34S
c.100C>T
2 papers
NM_013438.5
p.P34L
c.101C>T
2 papers
NM_013438.5
p.T40I
c.119C>T
2 papers
NM_013438.5
p.T40S
c.119C>G
2 papers
NM_013438.5
p.E46K
c.136G>A
2 papers
NM_013438.5
p.E48G
c.143A>G
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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."