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.K397N

c.1191A>C

Surrounding Variants

1 paper

NM_020383.4

p.V382F

c.1144G>T

1 paper

NM_020383.4

p.P441T

c.1321C>A

1 paper

NM_020383.4

p.H377_I378Splc

c.1131+1G>A

1 paper

NM_020383.4

p.R350C

c.1048C>T

1 paper

NM_020383.4

p.K347Q

c.1039A>C

1 paper

NM_020383.4

p.A340S

c.1018G>T

1 paper

NM_020383.4

p.K330N

c.990G>T

1 paper

NM_020383.4

p.K330N

c.990G>C

1 paper

NM_020383.4

p.L318F

c.952C>T

1 paper

NM_020383.4

p.P288L

c.863C>T

1 paper

NM_020383.4

p.T480A

c.1438A>G

1 paper

NM_020383.4

p.F487L

c.1459T>C