Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.E46D

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.E46D
c.138A>C
Surrounding Variants
1 paper
NM_013438.5
p.E46D
c.138A>T
1 paper
NM_013438.5
p.E46V
c.137A>T
1 paper
NM_013438.5
p.K47E
c.139A>G
1 paper
NM_013438.5
p.E46G
c.137A>G
1 paper
NM_013438.5
p.K47Q
c.139A>C
1 paper
NM_013438.5
p.E46A
c.137A>C
1 paper
NM_013438.5
p.E46Q
c.136G>C
2 papers
NM_013438.5
p.E46K
c.136G>A
1 paper
NM_013438.5
p.K47M
c.140A>T
1 paper
NM_013438.5
p.K47R
c.140A>G
1 paper
NM_013438.5
p.K47T
c.140A>C
1 paper
NM_013438.5
p.K47N
c.141G>T
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