Varaico: Literature-Extracted Genetic Variants

HAGH

42 papers

RefSeq Summary

The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding...

Pfam Domains

Lactamase_Baa 9–173UCSCMetallo-beta-lactamase superfamily

Lactamase_Baa 57–221UCSCMetallo-beta-lactamase superfamily

HAGH_Caa 174–244UCSCHydroxyacylglutathione hydrolase C-terminus

Gene Aliases

HGNC Name

hydroxyacylglutathione hydrolase

HGNC Alias Symbols

GLO2; GLXII; HAGH1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

3 papers

NM_005326.6

p.G17E

c.50G>A

2 papers

NM_005326.6

p.Q302*

c.904C>T

1 paper

NM_005326.6

p.R11H

c.32G>A

1 paper

NM_005326.6

p.A14P

c.40G>C

1 paper

NM_005326.6

p.R23Q

c.68G>A

1 paper

NM_005326.6

p.T48N

c.143C>A

1 paper

NM_005326.6

p.K50K

c.150G>A

1 paper

NM_005326.6

p.K71_E72delFs

c.213_214delCC

1 paper

NM_005326.6

p.V84delFs

c.250delC

1 paper

NM_005326.6

p.V93V

c.279G>C

1 paper

NM_005326.6

p.H102Q

c.306C>G

1 paper

NM_005326.6

p.N111T

c.332A>C