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

1–12 of 241 variants

21 papers

NM_000285.4

p.G448R

c.1342G>A

20 papers

NM_000285.4

p.G448R

c.1342G>C

19 papers

NM_000285.4

p.D276N

c.826G>A

19 papers

NM_000285.4

p.G278D

c.833G>A

17 papers

NM_000285.4

p.S202F

c.605C>T

12 papers

NM_000285.4

p.R184Q

c.551G>A

11 papers

NM_000285.4

p.E412K

c.1234G>A

9 papers

NM_000285.4

p.R265*

c.793C>T

8 papers

NM_000285.4

p.C183Splc

c.549-1G>A

8 papers

NM_000285.4

p.R184*

c.550C>T

8 papers

NM_000285.4

p.L435F

c.1303C>T

7 papers

NM_000285.4

p.W326*

c.977G>A