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.V389delFs

c.1167delC

Surrounding Variants

1 paper

NM_017570.5

p.V389_T390delFs

c.1167_1168delTC

2 papers

NM_017570.5

p.T392M

c.1175C>T

3 papers

NM_017570.5

p.G387S

c.1159G>A

1 paper

NM_017570.5

p.R400H

c.1199G>A

1 paper

NM_017570.5

p.P412L

c.1235C>T

3 papers

NM_017570.5

p.G413fs

c.1237_1238fs

3 papers

NM_017570.5

p.G413delFs

c.1237_1238delCC

1 paper

NM_017570.5

p.E421K

c.1261G>A

1 paper

NM_017570.5

p.V434I

c.1300G>A

1 paper

NM_017570.5

p.S436I

c.1307G>T

1 paper

NM_017570.5

p.F457C

c.1370T>G

1 paper

NM_017570.5

p.R459C

c.1375C>T