Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.R348W

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
2 papers
NM_018359.5
p.R348W
c.1042C>T
Surrounding Variants
1 paper
NM_018359.5
p.G346*
c.1036G>T
1 paper
NM_018359.5
p.V345V
c.1035C>T
1 paper
NM_018359.5
p.T343I
c.1028C>T
1 paper
NM_018359.5
p.G352_E355del0
c.1055_1063del9
1 paper
NM_018359.5
p.G346_I354del9
c.1036_1061del27
1 paper
NM_018359.5
p.V359V
c.1077A>G
1 paper
NM_018359.5
p.Q332_A333Splc
c.997-6A>G
1 paper
NM_018359.5
p.G365G
c.1095T>C
1 paper
NM_018359.5
p.T367T
c.1101G>A
1 paper
NM_018359.5
p.E329*
c.985G>T
1 paper
NM_018359.5
p.T326A
c.976A>G
1 paper
NM_018359.5
p.E321E
c.963G>A
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