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.N1105I

c.3314A>T

Surrounding Variants

3 papers

NM_017570.5

p.C1103R

c.3307T>C

1 paper

NM_017570.5

p.Q1101_G1102Splc

c.3304-10C>T

2 papers

NM_017570.5

p.Q1101_G1102Splc

c.3303+1G>C

1 paper

NM_017570.5

p.S1153delFs

c.3457_3458delCT

1 paper

NM_017570.5

p.A1096T

c.3286G>A

1 paper

NM_017570.5

p.I1090I

c.3270C>T

3 papers

NM_017570.5

p.V1089F

c.3265G>T

6 papers

NM_017570.5

p.V1089I

c.3265G>A

1 paper

NM_017570.5

p.A1073V

c.3218C>T

1 paper

NM_017570.5

p.V1157A

c.3470T>C

1 paper

NM_017570.5

p.R1160H

c.3479G>A

1 paper

NM_017570.5

p.E1163K

c.3487G>A