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.Q1001H

c.3003G>T

Surrounding Variants

1 paper

NM_017570.5

p.Q1001H

c.3003G>C

1 paper

NM_017570.5

p.S994F

c.2981C>T

2 papers

NM_017570.5

p.G993V

c.2978G>T

1 paper

NM_017570.5

p.D988D

c.2964C>T

1 paper

NM_017570.5

p.S986L

c.2957C>T

1 paper

NM_017570.5

p.Q1006_G1007Splc

c.3019-32T>C

1 paper

NM_017570.5

p.A977fs

c.2929_2930fs

1 paper

NM_017570.5

p.S974T

c.2920T>A

1 paper

NM_017570.5

p.R969H

c.2906G>A

2 papers

NM_017570.5

p.A1009A

c.3027C>T

1 paper

NM_017570.5

p.A1009_V1010insFs

c.3027_3028insT

1 paper

NM_017570.5

p.V1010fs

c.3028_3029fs