Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.A242V

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
Selected Variant
1 paper
NM_013438.5
p.A242V
c.725C>T
Surrounding Variants
1 paper
NM_013438.5
p.T238M
c.713C>T
1 paper
NM_013438.5
p.Q249E
c.745C>G
1 paper
NM_013438.5
p.G267R
c.799G>C
1 paper
NM_013438.5
p.G267R
c.799G>A
1 paper
NM_013438.5
p.G267E
c.800G>A
1 paper
NM_013438.5
p.R274C
c.820C>T
1 paper
NM_013438.5
p.Q288R
c.863A>G
1 paper
NM_013438.5
p.A297V
c.890C>T
1 paper
NM_013438.5
p.S304P
c.910T>C
1 paper
NM_013438.5
p.R313H
c.938G>A
1 paper
NM_013438.5
p.T314R
c.941C>G
2 papers
NM_013438.5
p.N322I
c.965A>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."