Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.L155F

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.L155F
c.463C>T
Surrounding Variants
1 paper
NM_013438.5
p.A156_G157delFs
c.468_469delCT
1 paper
NM_013438.5
p.S160I
c.479G>T
1 paper
NM_013438.5
p.L163F
c.489G>T
1 paper
NM_013438.5
p.L163F
c.489G>C
1 paper
NM_013438.5
p.Q176*
c.526C>T
1 paper
NM_013438.5
p.R177G
c.529C>G
1 paper
NM_013438.5
p.M185I
c.555G>T
1 paper
NM_013438.5
p.M185I
c.555G>C
1 paper
NM_013438.5
p.M185I
c.555G>A
1 paper
NM_013438.5
p.M186_V187insFs
c.558_559insC
1 paper
NM_013438.5
p.L199I
c.595C>A
1 paper
NM_013438.5
p.T238M
c.713C>T
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