Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_001330588.2

p.G252R

c.754G>C

Surrounding Variants

3 papers

NM_001330588.2

p.G252R

c.754G>A

1 paper

NM_001330588.2

p.N247Y

c.739A>T

2 papers

NM_001330588.2

p.V246I

c.736G>A

1 paper

NM_001330588.2

p.Y233C

c.698A>G

1 paper

NM_001330588.2

p.R225G

c.673A>G

1 paper

NM_001330588.2

p.K220*

c.658A>T

1 paper

NM_001330588.2

p.R207Splc

c.621-1G>C

1 paper

NM_001330588.2

p.E278A

c.833A>C

1 paper

NM_001330588.2

p.R282W

c.844C>T

1 paper

NM_001330588.2

p.G284V

c.851G>T

1 paper

NM_001330588.2

p.A289G

c.866C>G

1 paper

NM_001330588.2

p.E305K

c.913G>A