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.L98P

c.293T>C

Surrounding Variants

2 papers

NM_017570.5

p.R105fs

c.313_314fs

1 paper

NM_017570.5

p.R91W

c.271C>T

1 paper

NM_017570.5

p.R105_D106delFs

c.313_316del4

1 paper

NM_017570.5

p.A114V

c.341C>T

3 papers

NM_017570.5

p.R115H

c.344G>A

1 paper

NM_017570.5

p.I74I

c.222C>T

1 paper

NM_017570.5

p.Q57_E58Splc

c.171+6C>A

1 paper

NM_017570.5

p.R53C

c.157C>T

1 paper

NM_017570.5

p.R52C

c.154C>T

2 papers

NM_017570.5

p.G50S

c.148G>A

1 paper

NM_017570.5

p.T48T

c.144C>G

3 papers

NM_017570.5

p.R31Q

c.92G>A