Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.K35E

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.K35E
c.103A>G
Surrounding Variants
1 paper
NM_013438.5
p.K35Q
c.103A>C
1 paper
NM_013438.5
p.K35I
c.104A>T
1 paper
NM_013438.5
p.K35R
c.104A>G
1 paper
NM_013438.5
p.K35T
c.104A>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.K35N
c.105A>T
1 paper
NM_013438.5
p.K35N
c.105A>C
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.P34T
c.100C>A
1 paper
NM_013438.5
p.I36F
c.106A>T
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