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.T621T

c.1863A>G

Surrounding Variants

1 paper

NM_020383.4

p.S553C

c.1658C>G

1 paper

NM_020383.4

p.C545Y

c.1634G>A

2 papers

NM_020383.4

p.L524R

c.1571T>G

1 paper

NM_020383.4

p.F487L

c.1461C>G

1 paper

NM_020383.4

p.F487L

c.1461C>A

1 paper

NM_020383.4

p.F487L

c.1459T>C

1 paper

NM_020383.4

p.D637A

c.1910A>C

1 paper

NM_020383.4

p.V638M

c.1912G>A

1 paper

NM_020383.4

p.T480A

c.1438A>G

1 paper

NM_020383.4

p.P441T

c.1321C>A

1 paper

NM_020383.4

p.K397N

c.1191A>C