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

1–12 of 43 variants

2 papers

NM_020383.4

p.L524R

c.1571T>G

1 paper

NM_020383.4

p.R5T

c.14G>C

1 paper

NM_020383.4

p.V12fs

c.34_35fs

1 paper

NM_020383.4

p.I24L

c.70A>T

1 paper

NM_020383.4

p.I24L

c.70A>C

1 paper

NM_020383.4

p.P27H

c.80C>A

1 paper

NM_020383.4

p.H32insFs

c.94_95insC

1 paper

NM_020383.4

p.G42D

c.125G>A

1 paper

NM_020383.4

p.V48insFs

c.143_144insA

1 paper

NM_020383.4

p.Q71L

c.212A>T

1 paper

NM_020383.4

p.Q82_S83Splc

c.247-1604C>A

1 paper

NM_020383.4

p.R92R

c.276G>T