Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.A20G

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.A20G
c.59C>G
Surrounding Variants
1 paper
NM_013438.5
p.A20V
c.59C>T
1 paper
NM_013438.5
p.A20D
c.59C>A
1 paper
NM_013438.5
p.A20T
c.58G>A
1 paper
NM_013438.5
p.E21Q
c.61G>C
1 paper
NM_013438.5
p.E21K
c.61G>A
1 paper
NM_013438.5
p.G19V
c.56G>T
1 paper
NM_013438.5
p.E21V
c.62A>T
1 paper
NM_013438.5
p.E21G
c.62A>G
1 paper
NM_013438.5
p.E21D
c.63A>T
1 paper
NM_013438.5
p.E21D
c.63A>C
1 paper
NM_013438.5
p.G22S
c.64G>A
2 papers
NM_013438.5
p.G22V
c.65G>T
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