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.M329T

c.986T>C

Surrounding Variants

2 papers

NM_000285.4

p.M329V

c.985A>G

1 paper

NM_000285.4

p.R331C

c.991C>T

6 papers

NM_000285.4

p.W326*

c.978G>A

7 papers

NM_000285.4

p.W326*

c.977G>A

1 paper

NM_000285.4

p.W325*

c.975G>A

1 paper

NM_000285.4

p.W325*

c.974G>A

2 papers

NM_000285.4

p.D334N

c.1000G>A

1 paper

NM_000285.4

p.G323S

c.967G>A

1 paper

NM_000285.4

p.H343fs

c.1027_1028fs

1 paper

NM_000285.4

p.H343_M344delins

c.1029_1030delinsCCGCTCAGGAT

1 paper

NM_000285.4

p.V351fs

c.1051_1052fs

1 paper

NM_000285.4

p.V351delFs

c.1051delC