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.D164Splc

c.490+1G>C

Surrounding Variants

1 paper

NM_003399.6

p.V154M

c.460G>A

1 paper

NM_003399.6

p.G136V

c.407G>T

1 paper

NM_003399.6

p.Y117H

c.349T>C

1 paper

NM_003399.6

p.D114N

c.340G>A

1 paper

NM_003399.6

p.D164Splc

c.491-69G>A

1 paper

NM_003399.6

p.Y169Y

c.507T>C

1 paper

NM_003399.6

p.D86_G97del12

c.256_290del36

1 paper

NM_003399.6

p.Q84Q

c.252A>G

1 paper

NM_003399.6

p.E80K

c.238G>A

1 paper

NM_003399.6

p.M78_N79Splc

c.235-1G>C

1 paper

NM_003399.6

p.M78_N79Splc

c.235-22G>A

1 paper

NM_003399.6

p.G213Splc

c.638-112C>T