Varaico: Literature-Extracted Genetic Variants

PREPL

81 papers

RefSeq Summary

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the ...

Pfam Domains

Peptidase_S9_Naa 80–430UCSCProlyl oligopeptidase, N-terminal beta-propeller domain

Peptidase_S9aa 488–712UCSCProlyl oligopeptidase family

Gene Aliases

HGNC Name

prolyl endopeptidase like

HGNC Alias Symbol

KIAA0436

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001171613.2

p.P200L

c.599C>T

Surrounding Variants

1 paper

NM_001171613.2

p.P200Q

c.599C>A

1 paper

NM_001171603.1

p.L291_I292insFs

c.871_874dup4

1 paper

NM_006036.4

p.K294fs

c.880_881fs

1 paper

NM_001171613.2

p.K205insFs

c.614dupA

3 papers

NM_006036.4

p.R295*

c.883C>T

2 papers

NM_001171613.2

p.V188M

c.562G>A

1 paper

NM_001171613.2

p.K183T

c.548A>C

3 papers

NM_006036.4

p.I269delFs

c.807delA

1 paper

NM_001171613.2

p.D241G

c.722A>G

1 paper

NM_006036.4

p.D351H

c.1051G>C

1 paper

NM_006036.4

p.D351N

c.1051G>A

1 paper

NM_006036.4

p.D351G

c.1052A>G