Varaico: Literature-Extracted Genetic Variants

CPXM1

59 papers

RefSeq Summary

This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptida...

Pfam Domains

F5_F8_type_Caa 129–271UCSCF5/8 type C domain

Peptidase_M14aa 305–613UCSCZinc carboxypeptidase

CarboxypepD_regaa 624–701UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase X, M14 family member 1

HGNC Alias Symbols

CPX-1; CPX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019609.5

p.R512H

c.1535G>A

Surrounding Variants

1 paper

NM_019609.5

p.Y506*

c.1518C>G

1 paper

NM_019609.5

p.Y506*

c.1518C>A

1 paper

NM_019609.5

p.G500S

c.1498G>A

1 paper

NM_019609.5

p.W531*

c.1592G>A

1 paper

NM_019609.5

p.W531*

c.1593G>A

1 paper

NM_019609.5

p.S533C

c.1597A>T

2 papers

NM_019609.5

p.R480W

c.1438C>T

1 paper

NM_019609.5

p.R549Q

c.1646G>A

1 paper

NM_019609.5

p.S553N

c.1658G>A

3 papers

NM_019609.5

p.G573R

c.1717G>C

3 papers

NM_019609.5

p.G573R

c.1717G>A

1 paper

NM_019609.5

p.H455Q

c.1365C>G