Varaico: Literature-Extracted Genetic Variants

PREP

102 papers

RefSeq Summary

The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids lo...

Pfam Domains

Peptidase_S9_Naa 7–423UCSCProlyl oligopeptidase, N-terminal beta-propeller domain

Peptidase_S9aa 482–707UCSCProlyl oligopeptidase family

Gene Aliases

HGNC Name

prolyl endopeptidase

HGNC Alias Name

prolyl oligopeptidase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002726.5

p.F652L

c.1956C>A

Surrounding Variants

1 paper

NM_002726.5

p.F652L

c.1956C>G

1 paper

NM_002726.5

p.F652L

c.1954T>C

1 paper

NM_002726.5

p.T655I

c.1964C>T

1 paper

NM_002726.5

p.R662H

c.1985G>A

2 papers

NM_002726.5

p.D641A

c.1922A>C

3 papers

NM_002726.5

p.D641N

c.1921G>A

1 paper

NM_002726.5

p.N668S

c.2003A>G

1 paper

NM_002726.5

p.V674E

c.2021T>A

1 paper

NM_002726.5

p.E624G

c.1871A>G

1 paper

NM_002726.5

p.V693insFs

c.2077_2078ins4

1 paper

NM_002726.5

p.V693_S694insFs

c.2078_2081dup4

1 paper

NM_002726.5

p.D695fs

c.2083_2084fs