Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1

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
1–12 of 129 variants
3 papers
NM_145062.3
p.N379D
c.1135A>G
2 papers
NM_145062.3
p.C4*
c.12T>A
2 papers
NM_145062.3
p.T12A
c.34A>G
2 papers
NM_145062.3
p.M25I
c.75G>A
2 papers
NM_145062.3
p.R60*
c.178A>T
2 papers
NM_145062.3
p.S132N
c.395G>A
2 papers
NM_145062.3
p.D233delins
c.697_698delinsTA
2 papers
NM_145062.3
p.A237G
c.710C>G
2 papers
NM_145062.3
p.E286A
c.857A>C
2 papers
NM_145062.3
p.F445L
c.1333T>C
2 papers
NM_145062.3
p.F445L
c.1335T>G
2 papers
NM_145062.3
p.F445L
c.1335T>A
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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."