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

9 papers

NM_001872.5

p.K146K

c.438A>G

Surrounding Variants

1 paper

NM_001872.5

p.F153V

c.457T>G

1 paper

NM_001872.5

p.L158F

c.472C>T

1 paper

NM_001872.5

p.V160F

c.478G>T

1 paper

NM_001872.5

p.V160I

c.478G>A

4 papers

NM_001872.5

p.R114*

c.340C>T

1 paper

NM_001872.5

p.D109N

c.325G>A

1 paper

NM_001872.5

p.N108insFs

c.323_324ins10

3 papers

NM_001872.5

p.D100N

c.298G>A

1 paper

NM_001872.5

p.E99A

c.296A>C

1 paper

NM_001872.5

p.A96E

c.287C>A

1 paper

NM_001872.5

p.L95delFs

c.285delC

26 papers

NM_001872.5

p.A169T

c.505G>A