Varaico: Literature-Extracted Genetic Variants

Gene:THOP1
Variant:p.L518R

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.L518R
c.1553T>G
Surrounding Variants
1 paper
NM_003249.5
p.L518P
c.1553T>C
1 paper
NM_003249.5
p.W511C
c.1533G>C
1 paper
NM_003249.5
p.W511C
c.1533G>T
2 papers
NM_003249.5
p.R526C
c.1576C>T
1 paper
NM_003249.5
p.R533Q
c.1598G>A
1 paper
NM_003249.5
p.E502D
c.1506G>C
1 paper
NM_003249.5
p.E502D
c.1506G>T
1 paper
NM_003249.5
p.E502Q
c.1504G>C
1 paper
NM_003249.5
p.E537Q
c.1609G>C
1 paper
NM_003249.5
p.E497D
c.1491G>C
1 paper
NM_003249.5
p.E497D
c.1491G>T
1 paper
NM_003249.5
p.E497Q
c.1489G>C
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