Varaico: Literature-Extracted Genetic Variants

XPNPEP2

53 papers

RefSeq Summary

Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enz...

Pfam Domains

Creatinase_Naa 54–190UCSCCreatinase/Prolidase N-terminal domain

Creatinase_N_2aa 195–361UCSCCreatinase/Prolidase N-terminal domain

Peptidase_M24aa 363–576UCSCMetallopeptidase family M24

Peptidase_M24_Caa 584–648UCSCC-terminal region of peptidase_M24

Gene Aliases

HGNC Name

X-prolyl aminopeptidase 2

HGNC Previous Names

X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound; Xaa-Pro aminopeptidase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003399.6

p.D444E

c.1332T>G

Surrounding Variants

2 papers

NM_003399.6

p.D444E

c.1332T>A

1 paper

NM_003399.6

p.M446L

c.1336A>C

1 paper

NM_003399.6

p.M446L

c.1336A>T

1 paper

NM_003399.6

p.G452delFs

c.1354delG

1 paper

NM_003399.6

p.G453R

c.1357G>A

1 paper

NM_003399.6

p.G453R

c.1357G>C

1 paper

NM_003399.6

p.A429G

c.1286C>G

1 paper

NM_003399.6

p.E408del1

c.1222_1224delGAA

1 paper

NM_003399.6

p.G406Splc

c.1218-57G>A

1 paper

NM_003399.6

p.G406Splc

c.1217+17G>A

1 paper

NM_003399.6

p.I400M

c.1200C>G

1 paper

NM_003399.6

p.E394G

c.1181A>G