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

Selected Variant

1 paper

NM_001872.5

p.S75F

c.224C>T

Surrounding Variants

1 paper

NM_001872.5

p.S75Y

c.224C>A

1 paper

NM_001872.5

p.V72fs

c.214_215fs

1 paper

NM_001872.5

p.D78A

c.233A>C

1 paper

NM_001872.5

p.F71delFs

c.213delA

2 papers

NM_001872.5

p.F71fs

c.211_212fs

1 paper

NM_001872.5

p.F70V

c.208T>G

1 paper

NM_001872.5

p.K81Q

c.241A>C

1 paper

NM_001872.5

p.H83D

c.247C>G

1 paper

NM_001872.5

p.Q67fs

c.199_200fs

1 paper

NM_001872.5

p.L84*

c.251T>A

1 paper

NM_001872.5

p.L84F

c.252A>T

2 papers

NM_001872.5

p.V86M

c.256G>A