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.R1160H

c.3479G>A

Surrounding Variants

1 paper

NM_017570.5

p.E1163K

c.3487G>A

1 paper

NM_017570.5

p.V1157A

c.3470T>C

1 paper

NM_017570.5

p.G1167fs

c.3499_3500fs

1 paper

NM_017570.5

p.R1166delFs

c.3497_3498delCC

1 paper

NM_017570.5

p.G1167del1

c.3499_3500delGCC

1 paper

NM_017570.5

p.S1168S

c.3504G>T

1 paper

NM_017570.5

p.G1167_S1168delFs

c.3501_3502delAG

1 paper

NM_017570.5

p.G1167_S1168del2

c.3499_3503del6

1 paper

NM_017570.5

p.V1180I

c.3538G>A

1 paper

NM_017570.5

p.S1153delFs

c.3457_3458delCT

1 paper

NM_017570.5

p.G1205W

c.3613G>T

2 papers

NM_017570.5

p.G1208R

c.3622G>A