Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.T12A

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
2 papers
NM_145062.3
p.T12A
c.34A>G
Surrounding Variants
1 paper
NM_145062.3
p.E14K
c.40G>A
1 paper
NM_145062.3
p.I6I
c.18T>A
1 paper
NM_145062.3
p.K18I
c.53A>T
1 paper
NM_145062.3
p.C4W
c.12T>G
2 papers
NM_145062.3
p.C4*
c.12T>A
1 paper
NM_145062.3
p.C4_N5insC
c.10_14ins3
1 paper
NM_145062.3
p.S3A
c.7T>G
1 paper
NM_145062.3
p.L2insFs
c.4_5insC
1 paper
NM_145062.3
p.I22I
c.66T>A
2 papers
NM_145062.3
p.M25I
c.75G>A
1 paper
NM_145062.3
p.E26Q
c.76G>C
1 paper
NM_145062.3
p.E26K
c.76G>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."