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

2 papers

NM_004285.4

p.M77L

c.229A>C

Surrounding Variants

3 papers

NM_004285.4

p.M77L

c.229A>T

1 paper

NM_004285.4

p.L76F

c.226C>T

1 paper

NM_004285.4

p.E75A

c.224A>C

1 paper

NM_004285.4

p.K79Q

c.235A>C

1 paper

NM_004285.4

p.K79E

c.235A>G

1 paper

NM_004285.4

p.Q74*

c.220C>T

1 paper

NM_004285.4

p.A80T

c.238G>A

1 paper

NM_004285.4

p.A80P

c.238G>C

1 paper

NM_004285.4

p.G73G

c.219T>A

2 papers

NM_004285.4

p.G73S

c.217G>A

1 paper

NM_004285.4

p.Q72L

c.215A>T

1 paper

NM_004285.4

p.E82*

c.244G>T