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.R67R

c.199C>A

Surrounding Variants

1 paper

NM_019609.5

p.G58Splc

c.173-1G>A

1 paper

NM_019609.5

p.M76T

c.227T>C

1 paper

NM_019609.5

p.K80E

c.238A>G

1 paper

NM_019609.5

p.L105P

c.314T>C

1 paper

NM_019609.5

p.A108T

c.322G>A

1 paper

NM_019609.5

p.E112A

c.335A>C

1 paper

NM_019609.5

p.R129W

c.385C>T

1 paper

NM_019609.5

p.E131Q

c.391G>C

1 paper

NM_019609.5

p.S133A

c.397T>G

1 paper

NM_019609.5

p.H143Q

c.429C>G

1 paper

NM_019609.5

p.H143Q

c.429C>A

1 paper

NM_019609.5

p.Q175*

c.523C>T