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.Q20P

c.59A>C

Surrounding Variants

1 paper

NM_004285.4

p.Q20L

c.59A>T

1 paper

NM_004285.4

p.E21Q

c.61G>C

1 paper

NM_004285.4

p.E21A

c.62A>C

1 paper

NM_004285.4

p.A19D

c.56C>A

1 paper

NM_004285.4

p.A19V

c.56C>T

1 paper

NM_004285.4

p.A19T

c.55G>A

1 paper

NM_004285.4

p.Q18L

c.53A>T

1 paper

NM_004285.4

p.L22H

c.65T>A

1 paper

NM_004285.4

p.L22P

c.65T>C

1 paper

NM_004285.4

p.Q18*

c.52C>T

1 paper

NM_004285.4

p.Q23K

c.67C>A

1 paper

NM_004285.4

p.Q23E

c.67C>G