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.P306S

c.916C>T

Surrounding Variants

2 papers

NM_005326.6

p.Q302*

c.904C>T

1 paper

NM_005326.6

p.R294R

c.880C>A

1 paper

NM_005326.6

p.M293V

c.877A>G

1 paper

NM_005326.6

p.V290A

c.869T>C

1 paper

NM_005326.6

p.E277K

c.829G>A

1 paper

NM_005326.6

p.E266*

c.796G>T

1 paper

NM_005326.6

p.E250del1

c.748_750delCTC

1 paper

NM_005326.6

p.P236P

c.708C>T

1 paper

NM_005326.6

p.R232C

c.694C>T

1 paper

NM_005326.6

p.R232G

c.694C>G

1 paper

NM_005326.6

p.A231S

c.691G>T

1 paper

NM_005326.6

p.N227D

c.679A>G