Varaico: Literature-Extracted Genetic Variants

Gene:UBQLN1
Variant:p.N126fs

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.N126fs
c.376_377fs
Surrounding Variants
1 paper
NM_013438.5
p.N126fs
c.376_377fs
1 paper
NM_013438.5
p.N126delFs
c.377delT
3 papers
NM_013438.5
p.T128S
c.382A>T
1 paper
NM_013438.5
p.T128fs
c.382_383fs
1 paper
NM_013438.5
p.T129T
c.387A>C
1 paper
NM_013438.5
p.D114A
c.341A>C
1 paper
NM_013438.5
p.S139S
c.417T>C
1 paper
NM_013438.5
p.P112H
c.335C>A
1 paper
NM_013438.5
p.F147I
c.439T>A
1 paper
NM_013438.5
p.G148A
c.443G>C
1 paper
NM_013438.5
p.N110D
c.328A>G
1 paper
NM_013438.5
p.K107K
c.321A>G
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