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.H418R

c.1253A>G

Surrounding Variants

1 paper

NM_001872.5

p.I420N

c.1259T>A

1 paper

NM_001872.5

p.N422H

c.1264A>C

1 paper

NM_001872.5

p.K414Q

c.1240A>C

1 paper

NM_001872.5

p.F409S

c.1226T>C

1 paper

NM_001872.5

p.R387*

c.1159C>T

1 paper

NM_001872.5

p.F382L

c.1146T>G

1 paper

NM_001872.5

p.F382L

c.1146T>A

1 paper

NM_001872.5

p.F382S

c.1145T>C

1 paper

NM_001872.5

p.F382L

c.1144T>C

1 paper

NM_001872.5

p.Y374C

c.1121A>G

2 papers

NM_001872.5

p.G368C

c.1102G>T

1 paper

NM_001872.5

p.Y363Splc

c.1087+2T>C