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.N569delFs

c.1707delT

Surrounding Variants

1 paper

NM_004285.4

p.L567L

c.1699C>T

1 paper

NM_004285.4

p.E572E

c.1716G>A

5 papers

NM_004285.4

p.S565F

c.1694C>T

1 paper

NM_004285.4

p.S565delFs

c.1694delC

1 paper

NM_004285.4

p.S565_L567del3

c.1693_1700del9

1 paper

NM_004285.4

p.L563P

c.1688T>C

1 paper

NM_004285.4

p.E561_L563del3

c.1681_1688del9

1 paper

NM_004285.4

p.A578S

c.1732G>T

1 paper

NM_004285.4

p.G583delFs

c.1748delG

7 papers

NM_004285.4

p.P554L

c.1661C>T

1 paper

NM_004285.4

p.R551Q

c.1652G>A

1 paper

NM_004285.4

p.R551*

c.1651C>T