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.V300M

c.898G>A

Surrounding Variants

1 paper

NM_003399.6

p.S292F

c.875C>T

1 paper

NM_003399.6

p.F276fs

c.826_827fs

1 paper

NM_003399.6

p.F276delFs

c.828delT

1 paper

NM_003399.6

p.G332E

c.995G>A

1 paper

NM_003399.6

p.F261delFs

c.783delC

1 paper

NM_003399.6

p.S254I

c.761G>T

1 paper

NM_003399.6

p.K339_E340Splc

c.1018-133T>C

1 paper

NM_003399.6

p.E361K

c.1081G>A

1 paper

NM_003399.6

p.H369_V370Splc

c.1107+120C>T

1 paper

NM_003399.6

p.T235A

c.703A>G

2 papers

NM_003399.6

p.K232N

c.696G>C

2 papers

NM_003399.6

p.K232N

c.696G>T