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.G440R

c.1318G>C

Surrounding Variants

1 paper

NM_004285.4

p.G440S

c.1318G>A

47 papers

NM_004285.4

p.R437R

c.1311C>T

1 paper

NM_004285.4

p.R437C

c.1309C>T

2 papers

NM_004285.4

p.D445N

c.1333G>A

1 paper

NM_004285.4

p.P434H

c.1301C>A

1 paper

NM_004285.4

p.P434delFs

c.1302delT

2 papers

NM_004285.4

p.Y446*

c.1338C>A

2 papers

NM_004285.4

p.Y446*

c.1338C>G

3 papers

NM_004285.4

p.A448T

c.1342G>A

1 paper

NM_004285.4

p.A448V

c.1343C>T

1 paper

NM_004285.4

p.E431K

c.1291G>A

1 paper

NM_004285.4

p.S450I

c.1349G>T