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

2 papers

NM_004285.4

p.D123A

c.368A>C

Surrounding Variants

1 paper

NM_004285.4

p.I124S

c.371T>G

1 paper

NM_004285.4

p.E125D

c.375G>T

1 paper

NM_004285.4

p.A126T

c.376G>A

1 paper

NM_004285.4

p.A126S

c.376G>T

1 paper

NM_004285.4

p.A126A

c.378A>T

1 paper

NM_004285.4

p.A119A

c.357C>A

1 paper

NM_004285.4

p.Q127K

c.379C>A

1 paper

NM_004285.4

p.Q127H

c.381G>C

1 paper

NM_004285.4

p.A119S

c.355G>T

1 paper

NM_004285.4

p.Q127H

c.381G>T

19 papers

NM_004285.4

p.L128P

c.383T>C

1 paper

NM_004285.4

p.L128L

c.384C>T