Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.A552delFs

ZUP1

232 papers

RefSeq Summary

This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-l...

Pfam Domains

Peptidase_C78aa 335–551UCSCPeptidase family C78

Gene Aliases

HGNC Name

zinc finger containing ubiquitin peptidase 1

HGNC Previous Symbols

C6orf113; ZUFSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145062.3
p.A552delFs
c.1654delC
Surrounding Variants
1 paper
NM_145062.3
p.A556A
c.1668T>A
1 paper
NM_145062.3
p.L559R
c.1676T>G
1 paper
NM_145062.3
p.E561D
c.1683G>T
1 paper
NM_145062.3
p.E561D
c.1683G>C
1 paper
NM_145062.3
p.G541R
c.1621G>C
1 paper
NM_145062.3
p.G541R
c.1621G>A
2 papers
NM_145062.3
p.K534Q
c.1600A>C
1 paper
NM_145062.3
p.R518L
c.1553G>T
1 paper
NM_145062.3
p.C515*
c.1545T>A
1 paper
NM_145062.3
p.C515S
c.1544G>C
1 paper
NM_145062.3
p.C515S
c.1543T>A
1 paper
NM_145062.3
p.D512_G514del0
c.1534_1542del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."