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.G518S

c.1552G>A

Surrounding Variants

1 paper

NM_004285.4

p.R519W

c.1555C>T

1 paper

NM_004285.4

p.R519Q

c.1556G>A

1 paper

NM_004285.4

p.L511S

c.1532T>C

1 paper

NM_004285.4

p.R509H

c.1526G>A

1 paper

NM_004285.4

p.G508R

c.1522G>C

1 paper

NM_004285.4

p.E528G

c.1583A>G

2 papers

NM_004285.4

p.N507S

c.1520A>G

1 paper

NM_004285.4

p.L530insFs

c.1589dupT

1 paper

NM_004285.4

p.E506K

c.1516G>A

1 paper

NM_004285.4

p.G504E

c.1511G>A

2 papers

NM_004285.4

p.G504R

c.1510G>A

2 papers

NM_004285.4

p.G504R

c.1510G>C