Varaico: Literature-Extracted Genetic Variants

XPNPEP1

44 papers

RefSeq Summary

This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation ...

Pfam Domains

Creatinase_Naa 10–154UCSCCreatinase/Prolidase N-terminal domain

Creatinase_N_2aa 86–255UCSCCreatinase/Prolidase N-terminal domain

Peptidase_M24aa 257–473UCSCMetallopeptidase family M24

Peptidase_M24_Caa 484–548UCSCC-terminal region of peptidase_M24

Gene Aliases

HGNC Name

X-prolyl aminopeptidase 1

HGNC Previous Symbols

XPNPEPL1; XPNPEPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020383.4

p.V160V

c.480T>A

Surrounding Variants

1 paper

NM_020383.4

p.S152R

c.456T>A

1 paper

NM_020383.4

p.L140V

c.418C>G

1 paper

NM_020383.4

p.D195N

c.583G>A

1 paper

NM_020383.4

p.R204H

c.611G>A

1 paper

NM_020383.4

p.G218V

c.653G>T

1 paper

NM_020383.4

p.R229Q

c.686G>A

1 paper

NM_020383.4

p.D118V

c.353A>T

1 paper

NM_020383.4

p.T109K

c.326C>A

1 paper

NM_020383.4

p.T105P

c.313A>C

1 paper

NM_020383.4

p.G104Splc

c.310+95G>T

1 paper

NM_020383.4

p.R92R

c.276G>T

1 paper

NM_020383.4

p.P288L

c.863C>T