Varaico: Literature-Extracted Genetic Variants

Gene:THOP1
Variant:p.D70N

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.D70N
c.208G>A
Surrounding Variants
1 paper
NM_003249.5
p.E72K
c.214G>A
1 paper
NM_003249.5
p.A8A
c.24A>G
1 paper
NM_003249.5
p.E116G
c.347A>G
1 paper
NM_003249.5
p.M1insFs
c.3dupG
1 paper
NM_003249.5
p.R140W
c.418C>T
1 paper
NM_003249.5
p.R151G
c.451A>G
1 paper
NM_003249.5
p.K165E
c.493A>G
1 paper
NM_003249.5
p.L182M
c.544C>A
2 papers
NM_003249.5
p.T186M
c.557C>T
1 paper
NM_003249.5
p.L193F
c.577C>T
2 papers
NM_003249.5
p.G197R
c.589G>A
2 papers
NM_003249.5
p.G197R
c.589G>C
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