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

1 paper

NM_001330588.2

p.V422V

c.1266G>C

Surrounding Variants

1 paper

NM_001330588.2

p.I424V

c.1270A>G

1 paper

NM_001330588.2

p.A426A

c.1278G>A

2 papers

NM_001330588.2

p.S449A

c.1345T>G

1 paper

NM_001330588.2

p.N454S

c.1361A>G

1 paper

NM_001330588.2

p.C456R

c.1366T>C

1 paper

NM_001330588.2

p.L466P

c.1397T>C

1 paper

NM_001330588.2

p.Q497H

c.1491A>C

1 paper

NM_001330588.2

p.Q497H

c.1491A>T

3 papers

NM_001330588.2

p.G500D

c.1499G>A

1 paper

NM_001330588.2

p.Q503R

c.1508A>G

1 paper

NM_001330588.2

p.V512I

c.1534G>A

1 paper

NM_001330588.2

p.R536*

c.1606C>T