Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.C95S

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.C95S
c.283T>A
Surrounding Variants
1 paper
NM_145062.3
p.S93T
c.277T>A
1 paper
NM_145062.3
p.L81L
c.241C>T
1 paper
NM_145062.3
p.S111N
c.332G>A
1 paper
NM_145062.3
p.R60K
c.179G>A
2 papers
NM_145062.3
p.R60*
c.178A>T
1 paper
NM_145062.3
p.E59E
c.177A>G
1 paper
NM_145062.3
p.E59V
c.176A>T
2 papers
NM_145062.3
p.S132N
c.395G>A
1 paper
NM_145062.3
p.Q136K
c.406C>A
1 paper
NM_145062.3
p.S138R
c.414C>A
1 paper
NM_145062.3
p.F46V
c.136T>G
1 paper
NM_145062.3
p.C45S
c.134G>C
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