Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN3
Variant:p.E222E

UBQLN3

67 papers

RefSeq Summary

This gene encodes a 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 22–94UCSCUbiquitin family
UBQLN1aa 160–279UCSCUbiquilin-1-like domain
UBAaa 616–652UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquilin 3

HGNC Alias Symbol

TUP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017481.4
p.E222E
c.666G>A
Surrounding Variants
1 paper
NM_017481.4
p.L221P
c.662T>C
1 paper
NM_017481.4
p.R225H
c.674G>A
1 paper
NM_017481.4
p.N226H
c.676A>C
1 paper
NM_017481.4
p.M217V
c.649A>G
1 paper
NM_017481.4
p.M229V
c.685A>G
1 paper
NM_017481.4
p.P214L
c.641C>T
1 paper
NM_017481.4
p.E232D
c.696G>T
1 paper
NM_017481.4
p.E232D
c.696G>C
1 paper
NM_017481.4
p.L211I
c.631C>A
1 paper
NM_017481.4
p.R235H
c.704G>A
1 paper
NM_017481.4
p.I247L
c.739A>C
1 paper
NM_017481.4
p.R188_L190delFs
c.564_570del7
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."