Varaico: Literature-Extracted Genetic Variants

CPB2

148 papers

RefSeq Summary

Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, ...

Pfam Domains

Propep_M14aa 29–105UCSCCarboxypeptidase activation peptide

Peptidase_M14aa 129–197UCSCZinc carboxypeptidase

Peptidase_M14aa 196–374UCSCZinc carboxypeptidase

Gene Aliases

HGNC Name

carboxypeptidase B2

HGNC Alias Symbols

CPU; PCPB; TAFI

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

26 papers

NM_001872.5

p.A169T

c.505G>A

9 papers

NM_001872.5

p.K146K

c.438A>G

7 papers

NM_001872.5

p.I347T

c.1040T>C

4 papers

NM_001872.5

p.R114*

c.340C>T

3 papers

NM_001872.5

p.D100N

c.298G>A

3 papers

NM_001872.5

p.T351T

c.1053C>T

2 papers

NM_001872.5

p.Q55P

c.164A>C

2 papers

NM_001872.5

p.F71fs

c.211_212fs

2 papers

NM_001872.5

p.V86M

c.256G>A

2 papers

NM_001872.5

p.D177N

c.529G>A

2 papers

NM_001872.5

p.D226D

c.678T>C

2 papers

NM_001872.5

p.G368C

c.1102G>T