Varaico: Literature-Extracted Genetic Variants

Gene:THOP1
Variant:p.V496A

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.V496A
c.1487T>C
Surrounding Variants
1 paper
NM_003249.5
p.V496M
c.1486G>A
1 paper
NM_003249.5
p.E497Q
c.1489G>C
1 paper
NM_003249.5
p.H495N
c.1483C>A
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.E502Q
c.1504G>C
1 paper
NM_003249.5
p.M490R
c.1469T>G
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.W511C
c.1533G>C
1 paper
NM_003249.5
p.W511C
c.1533G>T
1 paper
NM_003249.5
p.L518P
c.1553T>C
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