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

1 paper

NM_017570.5

p.I228N

c.683T>A

Surrounding Variants

1 paper

NM_017570.5

p.V229I

c.685G>A

3 papers

NM_017570.5

p.S220L

c.659C>T

1 paper

NM_017570.5

p.L241_T242del1

c.723_725delGTG

1 paper

NM_017570.5

p.G205D

c.614G>A

1 paper

NM_017570.5

p.A198G

c.593C>G

1 paper

NM_017570.5

p.S270S

c.810C>T

1 paper

NM_017570.5

p.S270del1

c.808_809delGGA

1 paper

NM_017570.5

p.A275V

c.824C>T

1 paper

NM_017570.5

p.G170A

c.509G>C

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