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

Selected Variant

1 paper

NM_198320.5

p.L394R

c.1181T>G

Surrounding Variants

1 paper

NM_198320.5

p.S386R

c.1158T>G

1 paper

NM_198320.5

p.S386R

c.1158T>A

1 paper

NM_198320.5

p.S386R

c.1156A>C

1 paper

NM_198320.5

p.S406A

c.1216T>G

1 paper

NM_198320.5

p.S406P

c.1216T>C

1 paper

NM_198320.5

p.S406T

c.1216T>A

2 papers

NM_198320.5

p.H369R

c.1106A>G

1 paper

NM_198320.5

p.V366A

c.1097T>C

1 paper

NM_198320.5

p.Y343F

c.1028A>T

1 paper

NM_198320.5

p.G317C

c.949G>T