Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.T40A

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.T40A
c.118A>G
Surrounding Variants
1 paper
NM_013438.5
p.T40S
c.118A>T
1 paper
NM_013438.5
p.T40P
c.118A>C
2 papers
NM_013438.5
p.T40I
c.119C>T
2 papers
NM_013438.5
p.T40S
c.119C>G
1 paper
NM_013438.5
p.T40N
c.119C>A
1 paper
NM_013438.5
p.V39G
c.116T>G
1 paper
NM_013438.5
p.V39A
c.116T>C
1 paper
NM_013438.5
p.V39D
c.116T>A
1 paper
NM_013438.5
p.V41L
c.121G>T
1 paper
NM_013438.5
p.V39F
c.115G>T
1 paper
NM_013438.5
p.V41L
c.121G>C
1 paper
NM_013438.5
p.V39L
c.115G>C
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