Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.E49V

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.E49V
c.146A>T
Surrounding Variants
1 paper
NM_013438.5
p.E49G
c.146A>G
1 paper
NM_013438.5
p.E49A
c.146A>C
1 paper
NM_013438.5
p.E49Q
c.145G>C
1 paper
NM_013438.5
p.E49K
c.145G>A
1 paper
NM_013438.5
p.E49D
c.147A>T
1 paper
NM_013438.5
p.E49D
c.147A>C
1 paper
NM_013438.5
p.F50V
c.148T>G
1 paper
NM_013438.5
p.F50L
c.148T>C
2 papers
NM_013438.5
p.F50I
c.148T>A
1 paper
NM_013438.5
p.E48D
c.144G>T
1 paper
NM_013438.5
p.E48D
c.144G>C
1 paper
NM_013438.5
p.F50C
c.149T>G
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