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.E363K

c.1087G>A

Surrounding Variants

1 paper

NM_019609.5

p.R367L

c.1100G>T

1 paper

NM_019609.5

p.R354C

c.1060C>T

1 paper

NM_019609.5

p.G349E

c.1046G>A

5 papers

NM_019609.5

p.R387Q

c.1160G>A

1 paper

NM_019609.5

p.H346R

c.1037A>G

1 paper

NM_019609.5

p.D341H

c.1021G>C

1 paper

NM_019609.5

p.L418P

c.1253T>C

1 paper

NM_019609.5

p.H455Q

c.1365C>G

1 paper

NM_019609.5

p.H455Q

c.1365C>A

2 papers

NM_019609.5

p.R480W

c.1438C>T

1 paper

NM_019609.5

p.G500S

c.1498G>A

1 paper

NM_019609.5

p.Y506*

c.1518C>G