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.L421V

c.1261C>G

Surrounding Variants

2 papers

NM_000285.4

p.D419G

c.1256A>G

1 paper

NM_000285.4

p.I418V

c.1252A>G

2 papers

NM_000285.4

p.I415N

c.1244T>A

1 paper

NM_000285.4

p.I415fs

c.1243_1244fs

1 paper

NM_000285.4

p.G414insFs

c.1241dupG

1 paper

NM_000285.4

p.G414S

c.1240G>A

1 paper

NM_000285.4

p.P413S

c.1237C>T

11 papers

NM_000285.4

p.E412K

c.1234G>A

4 papers

NM_000285.4

p.A432T

c.1294G>A

1 paper

NM_000285.4

p.V408M

c.1222G>A

1 paper

NM_000285.4

p.F434fs

c.1300_1301fs

3 papers

NM_000285.4

p.F434delFs

c.1301delA