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.D328N

c.982G>A

Surrounding Variants

1 paper

NM_004285.4

p.S329G

c.985A>G

2 papers

NM_004285.4

p.K326K

c.978G>A

2 papers

NM_004285.4

p.Q325*

c.973C>T

1 paper

NM_004285.4

p.H331Y

c.991C>T

1 paper

NM_004285.4

p.H331R

c.992A>G

1 paper

NM_004285.4

p.E323G

c.968A>G

1 paper

NM_004285.4

p.E323V

c.968A>T

1 paper

NM_004285.4

p.R322K

c.965G>A

2 papers

NM_004285.4

p.T334M

c.1001C>T

1 paper

NM_004285.4

p.T334T

c.1002G>A

2 papers

NM_004285.4

p.R321insFs

c.961_962insG

1 paper

NM_004285.4

p.R321C

c.961C>T