Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.C444C

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.C444C
c.1332C>T
Surrounding Variants
2 papers
NM_018359.5
p.G445R
c.1333G>C
2 papers
NM_018359.5
p.G445R
c.1333G>A
1 paper
NM_018359.5
p.W443fs
c.1327_1328fs
1 paper
NM_018359.5
p.G448V
c.1343G>T
1 paper
NM_018359.5
p.Y457C
c.1370A>G
1 paper
NM_018359.5
p.N459T
c.1376A>C
1 paper
NM_018359.5
p.K441insFs
c.1322dupA
1 paper
NM_018359.5
p.E440G
c.1319A>G
1 paper
NM_018359.5
p.E440K
c.1318G>A
1 paper
NM_018359.5
p.Q436P
c.1307A>C
1 paper
NM_018359.5
p.E433Q
c.1297G>C
1 paper
NM_018359.5
p.T430T
c.1290C>T
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