Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN3
Variant:p.R624W

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.R624W
c.1870C>T
Surrounding Variants
2 papers
NM_017481.4
p.R624Q
c.1871G>A
1 paper
NM_017481.4
p.R624fs
c.1870_1871fs
1 paper
NM_017481.4
p.R624delFs
c.1872delC
1 paper
NM_017481.4
p.R631H
c.1892G>A
1 paper
NM_017481.4
p.A614S
c.1840G>T
1 paper
NM_017481.4
p.G642E
c.1925G>A
1 paper
NM_017481.4
p.D644D
c.1932C>T
1 paper
NM_017481.4
p.D601Y
c.1801G>T
1 paper
NM_017481.4
p.S655L
c.1964C>T
2 papers
NM_017481.4
p.*656*
c.1968G>A
1 paper
NM_017481.4
p.L583Q
c.1748T>A
1 paper
NM_017481.4
p.A582T
c.1744G>A
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."