Varaico: Literature-Extracted Genetic Variants

Gene:THOP1
Variant:p.E201E

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.E201E
c.603G>A
Surrounding Variants
1 paper
NM_003249.5
p.D202N
c.604G>A
1 paper
NM_003249.5
p.G197E
c.590G>A
1 paper
NM_003249.5
p.C246S
c.736T>A
1 paper
NM_003249.5
p.C246S
c.737G>C
1 paper
NM_003249.5
p.C248S
c.742T>A
1 paper
NM_003249.5
p.C248S
c.743G>C
1 paper
NM_003249.5
p.C253S
c.757T>A
1 paper
NM_003249.5
p.C253S
c.758G>C
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
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