Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.I154V

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.I154V
c.460A>G
Surrounding Variants
1 paper
NM_018359.5
p.V153A
c.458T>C
1 paper
NM_018359.5
p.E159D
c.477A>T
1 paper
NM_018359.5
p.H142R
c.425A>G
1 paper
NM_018359.5
p.G140_H141insFs
c.420_421insA
1 paper
NM_018359.5
p.H141N
c.421C>A
1 paper
NM_018359.5
p.G140E
c.419G>A
1 paper
NM_018359.5
p.G139*
c.415G>T
1 paper
NM_018359.5
p.E135K
c.403G>A
1 paper
NM_018359.5
p.I134M
c.402T>G
1 paper
NM_018359.5
p.I133T
c.398T>C
1 paper
NM_018359.5
p.V130I
c.388G>A
1 paper
NM_018359.5
p.T125S
c.374C>G
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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."