Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.E6*

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.E6*
c.16G>T
Surrounding Variants
1 paper
NM_013438.5
p.E6Q
c.16G>C
1 paper
NM_013438.5
p.E6K
c.16G>A
1 paper
NM_013438.5
p.E6D
c.18A>T
1 paper
NM_013438.5
p.S7C
c.19A>T
1 paper
NM_013438.5
p.S7G
c.19A>G
1 paper
NM_013438.5
p.S7R
c.19A>C
1 paper
NM_013438.5
p.S4S
c.12T>C
1 paper
NM_013438.5
p.G8C
c.22G>T
1 paper
NM_013438.5
p.S4C
c.10A>T
1 paper
NM_013438.5
p.S4G
c.10A>G
1 paper
NM_013438.5
p.E3D
c.9G>T
1 paper
NM_013438.5
p.G9D
c.26G>A
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