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.R581C

c.1741C>T

Surrounding Variants

2 papers

NM_017570.5

p.G584C

c.1750G>T

1 paper

NM_017570.5

p.A598G

c.1793C>G

1 paper

NM_017570.5

p.R604C

c.1810C>T

1 paper

NM_017570.5

p.F612F

c.1836T>C

1 paper

NM_017570.5

p.E614A

c.1841A>C

1 paper

NM_017570.5

p.V631M

c.1891G>A

3 papers

NM_017570.5

p.R635Q

c.1904G>A

1 paper

NM_017570.5

p.R637W

c.1909C>T

1 paper

NM_017570.5

p.V545L

c.1633G>T

1 paper

NM_017570.5

p.R658L

c.1973G>T

1 paper

NM_017570.5

p.R658Q

c.1973G>A

1 paper

NM_017570.5

p.E533K

c.1597G>A