Varaico: Literature-Extracted Genetic Variants

CPM

79 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophob...

Pfam Domains

Peptidase_M14aa 28–303UCSCZinc carboxypeptidase

CarboxypepD_regaa 314–387UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase M

HGNC Alias Names

renal carboxypeptidase; urinary carboxypeptidase B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

2 papers

NM_198320.5

p.I110N

c.329T>A

2 papers

NM_198320.5

p.H369R

c.1106A>G

1 paper

NM_198320.5

p.D2N

c.4G>A

1 paper

NM_198320.5

p.D2E

c.6C>A

1 paper

NM_198320.5

p.F3L

c.9C>A

1 paper

NM_198320.5

p.C5*

c.15C>A

1 paper

NM_198320.5

p.L18Q

c.53T>A

1 paper

NM_198320.5

p.Y22insFs

c.64_65insG

1 paper

NM_198320.5

p.Y22insFs

c.64_65insT

1 paper

NM_198320.5

p.R24L

c.71G>T

1 paper

NM_198320.5

p.E26insFs

c.77_78insT

1 paper

NM_198320.5

p.E26D

c.78A>C