Varaico: Literature-Extracted Genetic Variants

Gene:TPP2
Variant:p.E305Q

TPP2

89 papers

RefSeq Summary

This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I a...

Pfam Domains

Peptidase_S8aa 35–500UCSCSubtilase family
TPPII_Ig-like-1aa 521–634UCSCTripeptidyl-peptidase II, first Ig-like domain
TPPII_GBDaa 654–742UCSCTPPII, galactose-binding domain-like
TPPIIaa 777–964UCSCTripeptidyl peptidase II
TPPII_Caa 1018–1086UCSCTripeptidyl peptidase II, C-terminal

Gene Aliases

HGNC Name

tripeptidyl peptidase 2

HGNC Alias Symbol

TPPII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330588.2
p.E305Q
c.913G>C
Surrounding Variants
1 paper
NM_001330588.2
p.E305K
c.913G>A
1 paper
NM_001330588.2
p.A289G
c.866C>G
1 paper
NM_001330588.2
p.G284V
c.851G>T
1 paper
NM_001330588.2
p.R282W
c.844C>T
1 paper
NM_001330588.2
p.E278A
c.833A>C
1 paper
NM_001330588.2
p.M314T
c.941T>C
1 paper
NM_001330588.2
p.Y327D
c.979T>G
1 paper
NM_001330588.2
p.E331K
c.991G>A
2 papers
NM_001330588.2
p.E331Q
c.991G>C
1 paper
NM_001330588.2
p.Y356C
c.1067A>G
1 paper
NM_001330588.2
p.M391I
c.1173G>A
1 paper
NM_001330588.2
p.M391I
c.1173G>C
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