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.Y607S

c.1820A>C

Surrounding Variants

1 paper

NM_004285.4

p.Y607C

c.1820A>G

2 papers

NM_004285.4

p.L598L

c.1792C>T

1 paper

NM_004285.4

p.A597T

c.1789G>A

1 paper

NM_004285.4

p.V619I

c.1855G>A

1 paper

NM_004285.4

p.R622H

c.1865G>A

1 paper

NM_004285.4

p.S590L

c.1769C>T

1 paper

NM_004285.4

p.A588S

c.1762G>T

1 paper

NM_004285.4

p.S627S

c.1881A>G

1 paper

NM_004285.4

p.G583delFs

c.1748delG

1 paper

NM_004285.4

p.A578S

c.1732G>T

1 paper

NM_004285.4

p.E572E

c.1716G>A

1 paper

NM_004285.4

p.R645W

c.1933C>T