Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.S59L

UFSP2

68 papers

RefSeq Summary

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ...

Pfam Domains

UfSP2_Naa 36–256UCSCUbiquitin-fold modifier 1 specific protease 2, N-terminal
Peptidase_C78aa 276–461UCSCPeptidase family C78

Gene Aliases

HGNC Name

UFM1 specific peptidase 2

HGNC Previous Symbol

C4orf20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018359.5
p.S59L
c.176C>T
Surrounding Variants
1 paper
NM_018359.5
p.F53_S59del0
c.159_176del18
1 paper
NM_018359.5
p.I55delFs
c.163delT
1 paper
NM_018359.5
p.W63*
c.188G>A
1 paper
NM_018359.5
p.W63*
c.189G>A
1 paper
NM_018359.5
p.N69H
c.205A>C
1 paper
NM_018359.5
p.N49D
c.145A>G
1 paper
NM_018359.5
p.T70I
c.209C>T
1 paper
NM_018359.5
p.T70T
c.210C>A
1 paper
NM_018359.5
p.S47F
c.140C>T
1 paper
NM_018359.5
p.L75L
c.223C>T
1 paper
NM_018359.5
p.L39F
c.117G>T
1 paper
NM_018359.5
p.L39F
c.117G>C
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