Varaico: Literature-Extracted Genetic Variants

H6PD

957 papers

RefSeq Summary

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especiall...

Pfam Domains

G6PD_Naa 29–213UCSCGlucose-6-phosphate dehydrogenase, NAD binding domain

G6PD_Caa 215–514UCSCGlucose-6-phosphate dehydrogenase, C-terminal domain

Glucosamine_isoaa 558–782UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

HGNC Previous Symbol

GDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004285.4

p.L186V

c.556C>G

Surrounding Variants

1 paper

NM_004285.4

p.L186R

c.557T>G

3 papers

NM_004285.4

p.L186insFs

c.557_558insA

1 paper

NM_004285.4

p.Q185R

c.554A>G

1 paper

NM_004285.4

p.A187_T188del1

c.561_563delCAC

2 papers

NM_004285.4

p.T188A

c.562A>G

1 paper

NM_004285.4

p.T188S

c.562A>T

2 papers

NM_004285.4

p.T188K

c.563C>A

42 papers

NM_004285.4

p.T188I

c.563C>T

1 paper

NM_004285.4

p.E189del1

c.565_567delGAA

1 paper

NM_004285.4

p.A183V

c.548C>T

1 paper

NM_004285.4

p.F181Y

c.542T>A

1 paper

NM_004285.4

p.G191W

c.571G>T