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

1–12 of 588 variants

48 papers

NM_004285.4

p.G163S

c.487G>A

47 papers

NM_004285.4

p.R437R

c.1311C>T

42 papers

NM_004285.4

p.T188I

c.563C>T

40 papers

NM_004285.4

p.R453Q

c.1358G>A

19 papers

NM_004285.4

p.L128P

c.383T>C

10 papers

NM_004285.4

p.P335Q

c.1004C>A

9 papers

NM_004285.4

p.H63D

c.187C>G

8 papers

NM_004285.4

p.Y316*

c.948C>A

8 papers

NM_004285.4

p.Y316*

c.948C>G

8 papers

NM_004285.4

p.V342M

c.1024G>A

7 papers

NM_004285.4

p.P554L

c.1661C>T

6 papers

NM_004285.4

p.D151A

c.452A>C