Varaico: Literature-Extracted Genetic Variants

Gene:ZUP1
Variant:p.N503delFs

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.N503delFs
c.1508delT
Surrounding Variants
2 papers
NM_145062.3
p.N503fs
c.1507_1508fs
1 paper
NM_145062.3
p.N503insFs
c.1508dupA
1 paper
NM_145062.3
p.R504*
c.1510C>T
1 paper
NM_145062.3
p.N503fs
c.1507_1508fs
1 paper
NM_145062.3
p.K501R
c.1502A>G
1 paper
NM_145062.3
p.E500K
c.1498G>A
1 paper
NM_145062.3
p.D512A
c.1535A>C
1 paper
NM_145062.3
p.T494I
c.1481C>T
1 paper
NM_145062.3
p.S492R
c.1476T>G
1 paper
NM_145062.3
p.S492R
c.1476T>A
1 paper
NM_145062.3
p.C515S
c.1543T>A
1 paper
NM_145062.3
p.D512_G514del0
c.1534_1542del9
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