Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.E296A

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.E296A
c.887A>C
Surrounding Variants
1 paper
NM_145062.3
p.H298Q
c.894T>G
1 paper
NM_145062.3
p.H298Q
c.894T>A
1 paper
NM_145062.3
p.V287A
c.860T>C
1 paper
NM_145062.3
p.V287L
c.859G>T
1 paper
NM_145062.3
p.V287L
c.859G>C
2 papers
NM_145062.3
p.E286A
c.857A>C
1 paper
NM_145062.3
p.I285K
c.854T>A
1 paper
NM_145062.3
p.E284delFs
c.852delC
1 paper
NM_145062.3
p.E284fs
c.850_851fs
1 paper
NM_145062.3
p.G311C
c.931G>T
1 paper
NM_145062.3
p.F312Y
c.935T>A
1 paper
NM_145062.3
p.Q279_L280del1
c.836_838delGTT
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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."