Varaico: Literature-Extracted Genetic Variants

Gene:THOP1
Variant:p.C253S

THOP1

48 papers

RefSeq Summary

The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. Thi...

Pfam Domains

Peptidase_M3aa 227–677UCSCPeptidase family M3

Gene Aliases

HGNC Name

thimet oligopeptidase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003249.5
p.C253S
c.758G>C
Surrounding Variants
1 paper
NM_003249.5
p.C253S
c.757T>A
1 paper
NM_003249.5
p.E307*
c.919G>T
1 paper
NM_003249.5
p.E322E
c.966G>A
1 paper
NM_003249.5
p.R324Q
c.971G>A
1 paper
NM_003249.5
p.A387V
c.1160C>T
1 paper
NM_003249.5
p.E419K
c.1255G>A
1 paper
NM_003249.5
p.G420V
c.1259G>T
1 paper
NM_003249.5
p.P432P
c.1296C>T
1 paper
NM_003249.5
p.G433S
c.1297G>A
1 paper
NM_003249.5
p.R441C
c.1321C>T
1 paper
NM_003249.5
p.A446A
c.1338G>T
1 paper
NM_003249.5
p.D458N
c.1372G>A
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