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

1 paper

NM_000285.4

p.V351fs

c.1051_1052fs

Surrounding Variants

1 paper

NM_000285.4

p.V351delFs

c.1051delC

1 paper

NM_000285.4

p.H343_M344delins

c.1029_1030delinsCCGCTCAGGAT

1 paper

NM_000285.4

p.H343fs

c.1027_1028fs

1 paper

NM_000285.4

p.H358P

c.1073A>C

1 paper

NM_000285.4

p.L359M

c.1075C>A

3 papers

NM_000285.4

p.P365L

c.1094C>T

2 papers

NM_000285.4

p.P365R

c.1094C>G

1 paper

NM_000285.4

p.P365P

c.1095T>C

1 paper

NM_000285.4

p.H366H

c.1098C>T

2 papers

NM_000285.4

p.D334N

c.1000G>A

4 papers

NM_000285.4

p.L368R

c.1103T>G

1 paper

NM_000285.4

p.L368P

c.1103T>C