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.C95delFs

c.283delT

Surrounding Variants

1 paper

NM_004285.4

p.H94Q

c.282C>A

1 paper

NM_004285.4

p.C95R

c.283T>C

1 paper

NM_004285.4

p.H94_Q104del11

c.280_311del33

1 paper

NM_004285.4

p.E97Q

c.289G>C

3 papers

NM_004285.4

p.P92S

c.274C>T

2 papers

NM_004285.4

p.E97D

c.291G>C

1 paper

NM_004285.4

p.E97D

c.291G>T

1 paper

NM_004285.4

p.H98insFs

c.294dupC

1 paper

NM_004285.4

p.H98R

c.293A>G

1 paper

NM_004285.4

p.H98L

c.293A>T

1 paper

NM_004285.4

p.H98Q

c.294C>A

1 paper

NM_004285.4

p.K99fs

c.295_296fs