Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.K42R

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.K42R
c.125A>G
Surrounding Variants
1 paper
NM_013438.5
p.K42M
c.125A>T
1 paper
NM_013438.5
p.K42T
c.125A>C
1 paper
NM_013438.5
p.K42N
c.126G>T
1 paper
NM_013438.5
p.K42N
c.126G>C
1 paper
NM_013438.5
p.K42E
c.124A>G
1 paper
NM_013438.5
p.K42Q
c.124A>C
1 paper
NM_013438.5
p.T43S
c.127A>T
1 paper
NM_013438.5
p.T43A
c.127A>G
1 paper
NM_013438.5
p.T43P
c.127A>C
1 paper
NM_013438.5
p.V41G
c.122T>G
1 paper
NM_013438.5
p.V41A
c.122T>C
1 paper
NM_013438.5
p.V41E
c.122T>A
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