Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN3
Variant:p.R525W

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.R525W
c.1573C>T
Surrounding Variants
1 paper
NM_017481.4
p.R525Q
c.1574G>A
1 paper
NM_017481.4
p.E528A
c.1583A>C
1 paper
NM_017481.4
p.V533I
c.1597G>A
1 paper
NM_017481.4
p.P506A
c.1516C>G
2 papers
NM_017481.4
p.M546T
c.1637T>C
1 paper
NM_017481.4
p.M546I
c.1638G>T
1 paper
NM_017481.4
p.M546I
c.1638G>C
1 paper
NM_017481.4
p.M546I
c.1638G>A
1 paper
NM_017481.4
p.P503T
c.1507C>A
1 paper
NM_017481.4
p.A550A
c.1650A>G
1 paper
NM_017481.4
p.P480L
c.1439C>T
1 paper
NM_017481.4
p.D564_D570del7
c.1690_1709del21
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