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.D287N

c.859G>A

Surrounding Variants

1 paper

NM_000285.4

p.E280_Y281delFs

c.838_841del4

1 paper

NM_000285.4

p.Y281N

c.841T>A

4 papers

NM_000285.4

p.F292delFs

c.876delA

1 paper

NM_000285.4

p.A294T

c.880G>A

1 paper

NM_000285.4

p.A294fs

c.880_881fs

19 papers

NM_000285.4

p.G278D

c.833G>A

1 paper

NM_000285.4

p.G296S

c.886G>A

19 papers

NM_000285.4

p.D276N

c.826G>A

5 papers

NM_000285.4

p.F275delFs

c.825delG

1 paper

NM_000285.4

p.F275I

c.823T>A

2 papers

NM_000285.4

p.F275fs

c.823_824fs

2 papers

NM_000285.4

p.C273Splc

c.819-1G>A