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

5 papers

NM_017570.5

p.S323R

c.967A>C

Surrounding Variants

5 papers

NM_017570.5

p.S323R

c.969C>G

5 papers

NM_017570.5

p.S323R

c.969C>A

1 paper

NM_017570.5

p.T320T

c.960G>A

1 paper

NM_017570.5

p.T320M

c.959C>T

1 paper

NM_017570.5

p.T320K

c.959C>A

1 paper

NM_017570.5

p.T337A

c.1009A>G

3 papers

NM_017570.5

p.V340I

c.1018G>A

1 paper

NM_017570.5

p.P345R

c.1034C>G

2 papers

NM_017570.5

p.L347P

c.1040T>C

1 paper

NM_017570.5

p.G356R

c.1066G>A

3 papers

NM_017570.5

p.G357R

c.1069G>C

1 paper

NM_017570.5

p.F313_G316del4

c.937_947del12