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

3 papers

NM_000285.4

p.V194delFs

c.580delC

Surrounding Variants

2 papers

NM_000285.4

p.V194fs

c.580_581fs

1 paper

NM_000285.4

p.R196C

c.586C>T

1 paper

NM_000285.4

p.L192P

c.575T>C

1 paper

NM_000285.4

p.R196H

c.587G>A

1 paper

NM_000285.4

p.D189G

c.566A>G

1 paper

NM_000285.4

p.T188M

c.563C>T

17 papers

NM_000285.4

p.S202F

c.605C>T

1 paper

NM_000285.4

p.V185L

c.553G>T

12 papers

NM_000285.4

p.R184Q

c.551G>A

1 paper

NM_000285.4

p.C183delFs

c.549delG

8 papers

NM_000285.4

p.R184*

c.550C>T

8 papers

NM_000285.4

p.C183Splc

c.549-1G>A