Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.P34T

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.P34T
c.100C>A
Surrounding Variants
2 papers
NM_013438.5
p.P34S
c.100C>T
1 paper
NM_013438.5
p.P34A
c.100C>G
1 paper
NM_013438.5
p.E33D
c.99G>T
1 paper
NM_013438.5
p.E33D
c.99G>C
2 papers
NM_013438.5
p.P34L
c.101C>T
1 paper
NM_013438.5
p.P34R
c.101C>G
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.E33Q
c.97G>C
1 paper
NM_013438.5
p.E33K
c.97G>A
1 paper
NM_013438.5
p.K35E
c.103A>G
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