Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.L307M

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.L307M
c.919C>A
Surrounding Variants
1 paper
NM_018359.5
p.S306fs
c.916_917fs
1 paper
NM_018359.5
p.R305Q
c.914G>A
1 paper
NM_018359.5
p.I310V
c.928A>G
9 papers
NM_018359.5
p.C302S
c.905G>C
9 papers
NM_018359.5
p.C302S
c.904T>A
1 paper
NM_018359.5
p.G301D
c.902G>A
1 paper
NM_018359.5
p.W313L
c.938G>T
1 paper
NM_018359.5
p.G318E
c.953G>A
2 papers
NM_018359.5
p.R294H
c.881G>A
1 paper
NM_018359.5
p.T320K
c.959C>A
1 paper
NM_018359.5
p.Q292H
c.876G>T
1 paper
NM_018359.5
p.Q292H
c.876G>C
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