Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.G12D

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.G12D
c.35G>A
Surrounding Variants
1 paper
NM_013438.5
p.G12V
c.35G>T
1 paper
NM_013438.5
p.G12C
c.34G>T
1 paper
NM_013438.5
p.G12R
c.34G>C
1 paper
NM_013438.5
p.G12S
c.34G>A
1 paper
NM_013438.5
p.S13A
c.37T>G
1 paper
NM_013438.5
p.S13P
c.37T>C
1 paper
NM_013438.5
p.S13T
c.37T>A
1 paper
NM_013438.5
p.P11Q
c.32C>A
1 paper
NM_013438.5
p.P11T
c.31C>A
1 paper
NM_013438.5
p.P10P
c.30T>G
1 paper
NM_013438.5
p.P10P
c.30T>C
1 paper
NM_013438.5
p.P10P
c.30T>A
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