Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.A32V

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.A32V
c.95C>T
Surrounding Variants
1 paper
NM_013438.5
p.A32G
c.95C>G
2 papers
NM_013438.5
p.A32E
c.95C>A
1 paper
NM_013438.5
p.A32S
c.94G>T
1 paper
NM_013438.5
p.A32P
c.94G>C
1 paper
NM_013438.5
p.A32T
c.94G>A
1 paper
NM_013438.5
p.E33Q
c.97G>C
1 paper
NM_013438.5
p.E33K
c.97G>A
1 paper
NM_013438.5
p.S31Y
c.92C>A
1 paper
NM_013438.5
p.E33V
c.98A>T
1 paper
NM_013438.5
p.E33G
c.98A>G
1 paper
NM_013438.5
p.E33A
c.98A>C
1 paper
NM_013438.5
p.S31T
c.91T>A
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