Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.C45S

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.C45S
c.133T>A
Surrounding Variants
1 paper
NM_145062.3
p.C45S
c.134G>C
1 paper
NM_145062.3
p.F46V
c.136T>G
1 paper
NM_145062.3
p.K35T
c.104A>C
1 paper
NM_145062.3
p.C34W
c.102C>G
1 paper
NM_145062.3
p.C34F
c.101G>T
1 paper
NM_145062.3
p.F33V
c.97T>G
1 paper
NM_145062.3
p.P32L
c.95C>T
1 paper
NM_145062.3
p.E59V
c.176A>T
1 paper
NM_145062.3
p.E59E
c.177A>G
2 papers
NM_145062.3
p.R60*
c.178A>T
1 paper
NM_145062.3
p.R60K
c.179G>A
1 paper
NM_145062.3
p.E26Q
c.76G>C
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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."