Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.K106N

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.K106N
c.318A>T
Surrounding Variants
1 paper
NM_018359.5
p.K106N
c.318A>C
1 paper
NM_018359.5
p.E94_K104del11
c.280_311del33
1 paper
NM_018359.5
p.K104R
c.311A>G
1 paper
NM_018359.5
p.S109L
c.326C>T
3 papers
NM_018359.5
p.K103R
c.308A>G
1 paper
NM_018359.5
p.K99Q
c.295A>C
1 paper
NM_018359.5
p.E93D
c.279A>T
1 paper
NM_018359.5
p.E93D
c.279A>C
2 papers
NM_018359.5
p.E93K
c.277G>A
1 paper
NM_018359.5
p.E91D
c.273G>T
1 paper
NM_018359.5
p.E91D
c.273G>C
1 paper
NM_018359.5
p.Q89P
c.266A>C
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