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.K240E

c.718A>G

Surrounding Variants

1 paper

NM_001872.5

p.W238*

c.714G>A

1 paper

NM_001872.5

p.A260D

c.779C>A

2 papers

NM_001872.5

p.D226D

c.678T>C

1 paper

NM_001872.5

p.V225_D226Fs

c.675_676delinsGFs

1 paper

NM_001872.5

p.N210Y

c.628A>T

1 paper

NM_001872.5

p.I198L

c.592A>C

1 paper

NM_001872.5

p.E266D

c.798G>C

1 paper

NM_001872.5

p.S275S

c.825G>A

1 paper

NM_001872.5

p.E276*

c.826G>T

1 paper

NM_001872.5

p.E288V

c.863A>T

1 paper

NM_001872.5

p.R297G

c.889A>G

1 paper

NM_001872.5

p.T323_R324ins10

c.967_971ins30