Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN3
Variant:p.L61F

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.L61F
c.181C>T
Surrounding Variants
1 paper
NM_017481.4
p.D59Y
c.175G>T
1 paper
NM_017481.4
p.D59N
c.175G>A
1 paper
NM_017481.4
p.L63V
c.187C>G
1 paper
NM_017481.4
p.E49A
c.146A>C
1 paper
NM_017481.4
p.T40K
c.119C>A
1 paper
NM_017481.4
p.D31A
c.92A>C
1 paper
NM_017481.4
p.M98T
c.293T>C
1 paper
NM_017481.4
p.A7insFs
c.20dupC
1 paper
NM_017481.4
p.A7V
c.20C>T
1 paper
NM_017481.4
p.G115R
c.343G>C
1 paper
NM_017481.4
p.G115R
c.343G>A
1 paper
NM_017481.4
p.K3T
c.8A>C
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