Varaico: Literature-Extracted Genetic Variants

PEPD

185 papers

RefSeq Summary

This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an imp...

Pfam Domains

AMP_Naa 23–143UCSCAminopeptidase P, N-terminal domain

Peptidase_M24aa 193–459UCSCMetallopeptidase family M24

Gene Aliases

HGNC Name

peptidase D

HGNC Alias Names

prolidase; Xaa-Pro dipeptidase; imidodipeptidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_000285.4

p.R265*

c.793C>T

Surrounding Variants

1 paper

NM_000285.4

p.D264N

c.790G>A

2 papers

NM_000285.4

p.T266A

c.796A>G

1 paper

NM_000285.4

p.T266M

c.797C>T

1 paper

NM_000285.4

p.N263S

c.788A>G

1 paper

NM_000285.4

p.G260E

c.779G>A

1 paper

NM_000285.4

p.A259V

c.776C>T

1 paper

NM_000285.4

p.A259P

c.775G>C

1 paper

NM_000285.4

p.D271A

c.812A>C

1 paper

NM_000285.4

p.G257*

c.769G>T

4 papers

NM_000285.4

p.Y256*

c.768C>G

3 papers

NM_000285.4

p.Y256*

c.768C>A

5 papers

NM_000285.4

p.C273Splc

c.818+1G>C