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

Selected Variant

1 paper

NM_005326.6

p.N111T

c.332A>C

Surrounding Variants

1 paper

NM_005326.6

p.E112A

c.335A>C

1 paper

NM_005326.6

p.K116K

c.348G>A

1 paper

NM_005326.6

p.I130I

c.390C>T

1 paper

NM_005326.6

p.K136E

c.406A>G

1 paper

NM_005326.6

p.Q144_V145Splc

c.433-43C>T

1 paper

NM_005326.6

p.V145L

c.433G>T

1 paper

NM_005326.6

p.V145L

c.433G>C

1 paper

NM_001040427.2

p.T111I

c.332C>T

1 paper

NM_005326.6

p.G172G

c.516C>T

1 paper

NM_005326.6

p.V178A

c.533T>C

1 paper

NM_005326.6

p.H102Q

c.306C>G

1 paper

NM_005326.6

p.V93V

c.279G>C