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

1 paper

NM_003399.6

p.A17Splc

c.50-106G>A

Surrounding Variants

1 paper

NM_003399.6

p.A17Splc

c.50-10C>T

1 paper

NM_003399.6

p.A19G

c.56C>G

1 paper

NM_003399.6

p.G21_D32delFs

c.63_94del32

1 paper

NM_003399.6

p.D27Y

c.79G>T

1 paper

NM_003399.6

p.G29_V33del0

c.86_97del12

1 paper

NM_003399.6

p.G30_Q31insG

c.88_92ins3

1 paper

NM_003399.6

p.V33G

c.98T>G

1 paper

NM_003399.6

p.W11C

c.33G>C

1 paper

NM_003399.6

p.W11C

c.33G>T

1 paper

NM_003399.6

p.P10_W11insFs

c.30_31insG

1 paper

NM_003399.6

p.A2T

c.4G>A

1 paper

NM_003399.6

p.M78_N79Splc

c.235-22G>A