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

1–12 of 171 variants

9 papers

NM_017570.5

p.H870fs

c.2608_2609fs

7 papers

NM_017570.5

p.R768H

c.2303G>A

6 papers

NM_017570.5

p.V1089I

c.3265G>A

5 papers

NM_017570.5

p.S284R

c.850A>C

5 papers

NM_017570.5

p.S284R

c.852T>G

5 papers

NM_017570.5

p.S284R

c.852T>A

5 papers

NM_017570.5

p.S323R

c.967A>C

5 papers

NM_017570.5

p.S323R

c.969C>G

5 papers

NM_017570.5

p.S323R

c.969C>A

4 papers

NM_017570.5

p.G825R

c.2473G>C

4 papers

NM_017570.5

p.G825R

c.2473G>A

4 papers

NM_017570.5

p.H870delFs

c.2608delG