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.E256D

c.768G>T

Surrounding Variants

1 paper

NM_004285.4

p.E256D

c.768G>C

2 papers

NM_004285.4

p.E256A

c.767A>C

1 paper

NM_004285.4

p.Y254*

c.762T>A

1 paper

NM_004285.4

p.Y254*

c.762T>G

1 paper

NM_004285.4

p.Y254C

c.761A>G

1 paper

NM_004285.4

p.Y254H

c.760T>C

1 paper

NM_004285.4

p.F253V

c.757T>G

2 papers

NM_004285.4

p.R261C

c.781C>T

1 paper

NM_004285.4

p.S252R

c.754A>C

1 paper

NM_004285.4

p.D262N

c.784G>A

1 paper

NM_004285.4

p.T251A

c.751A>G

1 paper

NM_004285.4

p.D262G

c.785A>G