Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2

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
1–12 of 144 variants
19 papers
NM_018359.5
p.V115E
c.344T>A
10 papers
NM_018359.5
p.Y290H
c.868T>C
9 papers
NM_018359.5
p.C302S
c.904T>A
9 papers
NM_018359.5
p.C302S
c.905G>C
7 papers
NM_018359.5
p.D426A
c.1277A>C
6 papers
NM_018359.5
p.H428R
c.1283A>G
3 papers
NM_018359.5
p.K103R
c.308A>G
2 papers
NM_018359.5
p.E93K
c.277G>A
2 papers
NM_018359.5
p.R294H
c.881G>A
2 papers
NM_018359.5
p.R348W
c.1042C>T
2 papers
NM_018359.5
p.G445R
c.1333G>C
2 papers
NM_018359.5
p.G445R
c.1333G>A
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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."