Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN3
Variant:p.A281D

UBQLN3

67 papers

RefSeq Summary

This gene encodes a 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 22–94UCSCUbiquitin family
UBQLN1aa 160–279UCSCUbiquilin-1-like domain
UBAaa 616–652UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquilin 3

HGNC Alias Symbol

TUP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017481.4
p.A281D
c.842C>A
Surrounding Variants
1 paper
NM_017481.4
p.T282I
c.845C>T
1 paper
NM_017481.4
p.P277S
c.829C>T
1 paper
NM_017481.4
p.G274G
c.822C>T
1 paper
NM_017481.4
p.T290S
c.868A>T
1 paper
NM_017481.4
p.T290S
c.869C>G
1 paper
NM_017481.4
p.T290del1
c.868_869delGGT
1 paper
NM_017481.4
p.S294L
c.881C>T
1 paper
NM_017481.4
p.A268S
c.802G>T
1 paper
NM_017481.4
p.N267S
c.800A>G
1 paper
NM_017481.4
p.D263H
c.787G>C
1 paper
NM_017481.4
p.M262I
c.786G>T
1 paper
NM_017481.4
p.M262I
c.786G>C
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