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.R297G

c.889A>G

Surrounding Variants

1 paper

NM_001872.5

p.E288V

c.863A>T

1 paper

NM_001872.5

p.E276*

c.826G>T

1 paper

NM_001872.5

p.S275S

c.825G>A

1 paper

NM_001872.5

p.T323_R324ins10

c.967_971ins30

1 paper

NM_001872.5

p.E266D

c.798G>C

1 paper

NM_001872.5

p.S338T

c.1013G>C

1 paper

NM_001872.5

p.S338N

c.1013G>A

7 papers

NM_001872.5

p.I347T

c.1040T>C

3 papers

NM_001872.5

p.T351T

c.1053C>T

1 paper

NM_001872.5

p.Y363Splc

c.1087+2T>C

2 papers

NM_001872.5

p.G368C

c.1102G>T

1 paper

NM_001872.5

p.Y374C

c.1121A>G