Varaico: Literature-Extracted Genetic Variants

OPLAH

115 papers

RefSeq Summary

The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (...

Pfam Domains

Hydant_A_Naa 9–212UCSCHydantoinase/oxoprolinase N-terminal region

Hydantoinase_Aaa 231–531UCSCHydantoinase/oxoprolinase

Hydant_A_Caa 540–714UCSCHydantoinase/oxoprolinase C-terminal domain

Hydantoinase_Baa 734–1256UCSCHydantoinase B/oxoprolinase

Gene Aliases

HGNC Name

5-oxoprolinase, ATP-hydrolysing

HGNC Alias Symbols

OPLA; 5-Opase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_017570.5

p.G860R

c.2578G>C

Surrounding Variants

3 papers

NM_017570.5

p.G860R

c.2578G>A

1 paper

NM_017570.5

p.H856H

c.2568C>T

3 papers

NM_017570.5

p.M867_P868insFs

c.2601_2602insC

1 paper

NM_017570.5

p.P868L

c.2603C>T

1 paper

NM_017570.5

p.H870D

c.2608C>G

9 papers

NM_017570.5

p.H870fs

c.2608_2609fs

2 papers

NM_017570.5

p.H870insFs

c.2608dupC

4 papers

NM_017570.5

p.H870delFs

c.2608delG

2 papers

NM_017570.5

p.H870fs

c.2608_2609fs

1 paper

NM_017570.5

p.H870insFs

c.2610dupC

1 paper

NM_017570.5

p.P841S

c.2521C>T

1 paper

NM_017570.5

p.S883P

c.2647T>C